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a germline mutation in the TEL patch of the telomere protein TPP1.Genes Dev 2014(passive) caused byHoyeraal - Hreidarsson syndrome
Prevention Surgery as early as possible to correct the heart defectcan preventEisenmenger syndrome
mutations of the ALMS1 gene ( 2p13.1(passive) is caused byAlstrom syndrome
More than 80 mutations in the ALMS1 gene have been foundto causeAlstrom syndrome
35,1959 ↵ Hearn T , Renforth GL , Spalluto C , Hanley NA , Piper K , Brickwood S , White C , Connolly V , Taylor JF , Russell - Eggitt I , Bonneau D , Walker M , Wilson DI : Mutation of ALMS1 , a large gene with a tandem repeat encoding 47 amino acidscausesAlstrom syndrome
Publisher Full Text Hearn T , Renforth GL , Spalluto C , Hanley NA , Piper K , Brickwood S , White C , Connolly V , Taylor JF , Russell - Eggitt I , Bonneau D , Walker M , Wilson DI : Mutation of ALMS1 , a large gene with a tandem repeat encoding 47 amino acidscausesAlstrom syndrome
74–78 Renforth G. L. , ( 2002 ) Mutation of ALMS1 , a large gene with a tandem repeat encoding 47 amino acidscausesAlstrom syndrome
adreno - leukodystrophy ' , Neurology , vol(passive) caused byKluver - Bucy syndrome
Marijuana can also be claimedto causeamotivational syndrome
homozygous mutation in the testis - specific protein Y - like-1 gene , TSPYL1 on chromosome 6 ( 6q22.1-q22.31(passive) is caused bySIDDT syndrome
Naggert J.K. Mutation of ALMS1 , a large gene with a tandem repeat encoding 47 amino acidscausesAlstrom syndrome
mutant ZIP13 proteins | EMBO Molecular Medicine Molecular pathogenesis of Spondylocheirodysplastic Ehlers‐Danlos syndrome caused by mutant ZIP13 proteins Bum‐Ho Bin , Shintaro Hojyo , Toshiaki Hosaka , Jinhyuk Bhin , Hiroki Kano , Tomohiro Miyai , Mariko Ikeda , Tomomi Kimura‐Someya , Mikako Shirouzu(passive) caused bySpondylocheirodysplastic Ehlers‐Danlos syndrome
| Health Information | Walgreens | PreventionSurgery as early as possible to correct the heart defectcan preventEisenmenger syndrome
Examples of bone spicules.[healio.com ] Mutation of ALMS1 , a large gene with a tandem repeat encoding 47 amino acidscausesAlstrom syndrome
Hearn T , Renforth GL , Spalluto C , Hanley NA , Piper K , Brickwood S , White C , Connolly V , Taylor JFN , Russell - Eggitt I , Bonneau D , Walker M , Wilson DI ( 2002 ) : Mutation of ALMS1 , a large gene with a tandem repeat encoding 47 amino acidscausesAlstrom syndrome
antibodies to neural proteins(passive) is caused byParaneoplastic Syndrome
34 X 47 AA approximate tandem repeat Mutation of ALMS1 , a large gene with a tandem repeat encoding 47 amino acidscausesAlstrom syndrome
Some lung cancerscan causeparaneoplastic syndrome
Genetic mutations to the ALMS1 gene ... one of the rarest genetic disorders in the world , with less than 1,000 cases globallycausesAlstrom Syndrome
ASD , VSD , PDA(passive) caused byEisenmenger syndrome (
10.1016 / S0168 - 8227(02)00004 - 9.View ArticlePubMedHearn T , Renforth GL , Spalluto C , Hanley NA , Piper K , Brickwood S , White C , Connolly V , Taylor JF , Russell - Eggitt I , Bonneau D , Walker M , Wilson DI : Mutation of ALMS1 , a large gene with a tandem repeat encoding 47 amino acidscausesAlstrom syndrome
Treat and repair " approach Ideally , corrective operations should have been done earlierto preventEisenmenger syndrome
mutations in this gene(passive) is also caused byPopliteal pterygium syndrome
an abnormal gene(passive) is caused byCausesCrigler - Najjar syndrome
other pain meds & amp ; anti - depressants w / savellawill causeSertonin syndrome
prostate cancercan causeparaneoplastic syndrome
the thyroid cancer(passive) caused byparaneoplastic syndrome
Cancer in the body(passive) caused byparaneoplastic syndrome
Hearn T , Spalluto C , Phillips VJ , et al.[rarediseases.org ] spicules.[ncbi.nlm.nih.gov ] Mutation of ALMS1 , a large gene with a tandem repeat encoding 47 amino acidscausesAlstrom syndrome
intraventricular tumor(passive) caused byS.Bruns syndrome
chronic cannabis usecausesamotivational syndrome
extreme obesity(passive) is caused byPickwickian Syndrome
certain congenital heart defects that are repaired very late in life or were never repaired(passive) caused byEisenmenger syndrome
antibodies associated with cancers(passive) caused byParaneoplastic syndrome
an aberrant cross - linking of bone collagen ... due to underhydroxylation of lysine residues within the telopeptides of type I collagen(passive) is caused byPathogenesis Bruck syndrome
Hearn T. , Renforth G.L. , Spalluto C. , Hanley N.A. , Piper K. , Brickwood S. , White C. , Connolly V. , Taylor J.F. , Russell - Eggitt I. , Bonneau D. , Walker M. , Wilson D.I. Mutation of ALMS1 , a large gene with a tandem repeat encoding 47 amino acidscausesAlstrom syndrome
mutation in the DKC1 gene(passive) is caused byHoyeraal - Hreidarsson syndrome
a cancer somewhere in her body(passive) caused byparaneoplastic syndrome
Any heart defect that leads to the development of PAHcan causeEisenmenger syndrome
complex congenital heart defects ( e.g. single ventricle physiology with unobstructed lung perfusion(passive) caused byEisenmenger syndrome
Pulmonary hypertension(passive) caused byPulmonary hypertension
hypersexualitycauseshypersexuality
cleft lip and palate , Hydronephrosis , Intestinal obstruction and other symptoms.[37can causecleft lip and palate , Hydronephrosis , Intestinal obstruction and other symptoms.[37
menstrual changes and infertilitycan causemenstrual changes and infertility
infertility or repeated miscarriagescan also causeinfertility or repeated miscarriages
® 91 Possible Causes for Diastolic Murmur , Polycythemia , Pulmonary Systolic Murmur Chronic hypoxia(passive) caused by® 91 Possible Causes for Diastolic Murmur , Polycythemia , Pulmonary Systolic Murmur Chronic hypoxia
to hypercalcemia and hyperuricemialeadingto hypercalcemia and hyperuricemia
infertility , miscarriage , or preterm delivery in future pregnanciescan causeinfertility , miscarriage , or preterm delivery in future pregnancies
https://doi.org/10.1007/BF01536716 Autonomic function and motility in intestinal pseudoobstruction(passive) caused byhttps://doi.org/10.1007/BF01536716 Autonomic function and motility in intestinal pseudoobstruction
secondary erythrocytosis.[bloodjournal.org ] Chronic hypoxia(passive) caused bysecondary erythrocytosis.[bloodjournal.org ] Chronic hypoxia
Camilleri , M. ; Camoriano , J. K. ; Low , P. A. ; Fealey , R. D. ; Perry , M. C. / Autonomic function and motility in intestinal pseudoobstruction(passive) caused byCamilleri , M. ; Camoriano , J. K. ; Low , P. A. ; Fealey , R. D. ; Perry , M. C. / Autonomic function and motility in intestinal pseudoobstruction
a type of heart disease that weakens and enlarges the muscles of the heartcausesa type of heart disease that weakens and enlarges the muscles of the heart
to the significant reduction in the duration and the quality of lifeleadingto the significant reduction in the duration and the quality of life
serious complications in pregnancy which may lead to maternal death in about 50 % of casesmay causeserious complications in pregnancy which may lead to maternal death in about 50 % of cases
polymyalgia rheumatica - like symptoms(passive) caused bypolymyalgia rheumatica - like symptoms
clinical features such as SPS and elevated anti - GAD antibodiescan causeclinical features such as SPS and elevated anti - GAD antibodies
from cholecystoduodenal fistula and impacted gallstone in the duodenumresultingfrom cholecystoduodenal fistula and impacted gallstone in the duodenum
yellow - brown colored banana shaped fibers , caviar - like papules and bluish - grey hyperpigmentationcausesyellow - brown colored banana shaped fibers , caviar - like papules and bluish - grey hyperpigmentation
to this kind of effectcan leadto this kind of effect
to the rapid eye movements and difficulty with coordinationleadsto the rapid eye movements and difficulty with coordination
if left untreatedcan resultif left untreated
pelvic pain or painful menstrual periodscan causepelvic pain or painful menstrual periods
to scar tissue in the uterusleadsto scar tissue in the uterus
scarring in the uterus and cause obstructions and secondary amenorrheacausescarring in the uterus and cause obstructions and secondary amenorrhea
scar tissue to form within the uterus , which can lead to the rejection of an embryocausesscar tissue to form within the uterus , which can lead to the rejection of an embryo
scarring of the cervix and uteruscausesscarring of the cervix and uterus
Myelodysplastic Syndrome symptoms , Myelodysplastic Syndrome treatmentcausesMyelodysplastic Syndrome symptoms , Myelodysplastic Syndrome treatment
due to the exacerbation of the DM that was caused by the intrahepatic ICCwas discovereddue to the exacerbation of the DM that was caused by the intrahepatic ICC
to several complications , such as : edema , or a buildup of fluid in the legs secondary erythrocytosis , or raised levels of red blood cellscan leadto several complications , such as : edema , or a buildup of fluid in the legs secondary erythrocytosis , or raised levels of red blood cells
problems with movements , sensory perception , thinking abilities , and sleep issuescausesproblems with movements , sensory perception , thinking abilities , and sleep issues
vision or hearing loss , both of which Shannon has , and a host of different symptomscausesvision or hearing loss , both of which Shannon has , and a host of different symptoms
from chromosome ( Chr ) 21 trisomy and is associated with congenital defects , cognitive impairment , and ultimately Alzheimer 's diseaseresultsfrom chromosome ( Chr ) 21 trisomy and is associated with congenital defects , cognitive impairment , and ultimately Alzheimer 's disease
dysautonomiacan causedysautonomia
to a further disruptence in mental statuscan leadto a further disruptence in mental status
from tumor - derived hormones or peptides that cause metabolic derangementsgenerally resultsfrom tumor - derived hormones or peptides that cause metabolic derangements
discomfort or visual stresscausesdiscomfort or visual stress
symptoms to appear in other areas of the body , and awareness of these symptoms may help with diagnosing lung cancercan causesymptoms to appear in other areas of the body , and awareness of these symptoms may help with diagnosing lung cancer
blindness , diabetes and excessive weight gaincausedblindness , diabetes and excessive weight gain
scar tissuescausesscar tissues
huge lumps to form on the body thus causing his bones to deform and thicken as well as warp his skin he became a sideshow attraction and became a celebrity of the time because his head was so large and heavycausedhuge lumps to form on the body thus causing his bones to deform and thicken as well as warp his skin he became a sideshow attraction and became a celebrity of the time because his head was so large and heavy