by mutations in the ptpn11 gene(passive) caused byNoonan syndrome
Mutations in the KRAS and PTPN11 genescauseNoonan syndrome
by mutations in KRAS and PTPN11 genes(passive) to be caused byNoonan syndrome
Mutations in the KRAS , PTPN11 , RAF1 , and SOS1 genescauseNoonan syndrome
a mutation in the KRAS gene(passive) caused byNoonan syndrome (
Dilantin usacausesthepain syndrome
Germline gain - of - function mutations in SOS1causeNoonan syndrome
by germline KRAS mutations(passive) caused byNoonan syndrome
Germline KRAS mutationscauseNoonan syndrome
Germline KRAS mutationscauseNoonan syndrome
- Germline kras mutationscausenoonan syndrome
Germline gain - of - function mutations in RAF1causeNoonan syndrome
Mutations in the PTPN11 , SOS1 , RAF1 , KRAS , NRAS and BRAF genescauseNoonan syndrome
mutations in the SHP2 gene that result in hyperactivation of the enzyme it encodes(passive) is caused byNoonan syndrome
a mutation in any of several genes(passive) may be caused byNoonan syndrome
by a mutation in any of several genes(passive) may be caused byNoonan syndrome
by a mutation in the Shoc2 gene(passive) caused byNoonan Syndrome
mutations in the protein tyrosine phosphatase SHP-2 gene ( PTPN11(passive) is caused byNoonan syndrome
by a KRAS germline mutation(passive) caused byNoonan syndrome
by missense PTPN11 mutations(passive) can be caused byNoonan syndrome
by mutations in KRAS and PTPN11(passive) to be caused byNoonan syndrome
mutations in PTPN11 , SOS1 , RAF1 , KRAS , and NRAS(passive) is caused byNoonan syndrome
2007 - Germline gain - of - function mutations in RAF1causeNoonan syndrome
the gene changescauseNoonan syndrome
A restricted spectrum of NRAS mutationscausesNoonan syndrome
restricted spectrum of NRAS mutationscausesNoonan syndrome
A restricted spectrum of NRAS mutationscausesNoonan syndrome
spectrum of NRAS mutationscausesNoonan syndrome
in which mutations have been reportedto causeNoonan syndrome
in which pathogenic variants have been foundto causeNoonan syndrome
by mutation in * PTPN11 * or * KRAS(passive) caused byNoonan syndrome
mutationscausingNoonan syndrome
Most mutationscausingNoonan syndrome
by mutations(passive) may be causedNoonan syndrome
mutationscauseNoonan syndrome
AS mutationscauseNoonan syndrome
the different genecausesNoonan Syndrome
a missense mutation in the PTPN11 gene on chr 12q24.1 in 50 % of cases(passive) is caused byNoonan syndrome
extreme pain in my joints when it ' flares ' and issues with joint dislocationscausesextreme pain in my joints when it ' flares ' and issues with joint dislocations
repeated episodes of fever , mouth sores , sore throat , and swollen lymph nodescausesrepeated episodes of fever , mouth sores , sore throat , and swollen lymph nodes
from a chronic problemresultingfrom a chronic problem
from somatic dysfunctionresultingfrom somatic dysfunction
from gall bladder diseaseresultingfrom gall bladder disease
him to have issues with his heart and eyescauseshim to have issues with his heart and eyes
short stature(passive) caused byshort stature
bleeding in the lungs and glomerulonephritiscausesbleeding in the lungs and glomerulonephritis
from the massive release of mediators resulting in sudden shockresultsfrom the massive release of mediators resulting in sudden shock
problems in the liver , heart , eyes , spine , and kidneyscausesproblems in the liver , heart , eyes , spine , and kidneys
severe development delays due to an extra chromosome 18causessevere development delays due to an extra chromosome 18
severe developmental delays due to an extra chromosomecausessevere developmental delays due to an extra chromosome
an irresistible urge to move the legs with its uncomfortable , tingling , aching or creeping sensationscausesan irresistible urge to move the legs with its uncomfortable , tingling , aching or creeping sensations
a variety of medical and developmental problems , including short height , failure of the ovaries to develop and heart defectscan causea variety of medical and developmental problems , including short height , failure of the ovaries to develop and heart defects
to acute , severe renal and pulmonary problemsleadsto acute , severe renal and pulmonary problems
mental retardation in the children and they have very characteristic physical features that is only associated with this disordercausesmental retardation in the children and they have very characteristic physical features that is only associated with this disorder
a distinct facial appearance , intellectual disability , developmental delays and other physical challengescausesa distinct facial appearance , intellectual disability , developmental delays and other physical challenges
menstrual abnormalities , including painful cycles , infertility or miscarriagecan causemenstrual abnormalities , including painful cycles , infertility or miscarriage
in a drop in performance , structural injury , such as in the foot , knee , or lower back and metabolic problems , such as fatigue or infectionresultin a drop in performance , structural injury , such as in the foot , knee , or lower back and metabolic problems , such as fatigue or infection
people to have weakness or even paralysis in parts of the bodyoften causespeople to have weakness or even paralysis in parts of the body
delayed physical growth and some form of intellectual disabilitycausesdelayed physical growth and some form of intellectual disability
sudden convulsions or seizures ... leading to a coma and brain deathcan causesudden convulsions or seizures ... leading to a coma and brain death
severe ( but usually temporary ) paralysiscausessevere ( but usually temporary ) paralysis
problems such as loss of learning ability and heart defectscan causeproblems such as loss of learning ability and heart defects
to mental retardation , cardiac difficulties , and other problemsmay leadto mental retardation , cardiac difficulties , and other problems
mental disability , a characteristic facial appearance , and multiple malformationscausesmental disability , a characteristic facial appearance , and multiple malformations
weakness and paralysis in the bodycan causeweakness and paralysis in the body
mental retardation , heart abnormalities and other birth defectscausesmental retardation , heart abnormalities and other birth defects
a distinct facial appearance , intellectual disability , developmental delays and may be associated with thyroid or heart diseasecausesa distinct facial appearance , intellectual disability , developmental delays and may be associated with thyroid or heart disease
to complications that affect the liver and other parts of the bodycan leadto complications that affect the liver and other parts of the body
symptoms of nausea , vomiting , fatigue , hair loss , and diarrheawill causesymptoms of nausea , vomiting , fatigue , hair loss , and diarrhea
heart and other organ defects along with mental retardationcausesheart and other organ defects along with mental retardation
significant death lossis causingsignificant death loss
abnormal liver function tests , especially those that reflect the presence of cholestasis , i.e. abnormal bile flowcausesabnormal liver function tests , especially those that reflect the presence of cholestasis , i.e. abnormal bile flow
mental retardation , a characteristic facial appearance , and multiple malformationscausesmental retardation , a characteristic facial appearance , and multiple malformations
facial abnormalities and mental retardation that can range from mild to severecausesfacial abnormalities and mental retardation that can range from mild to severe
dysfunction of other organs such as the kidneys , gastrointestinal system , blood vessels , lungs , liver , pancreas , and central nervous systemmay causedysfunction of other organs such as the kidneys , gastrointestinal system , blood vessels , lungs , liver , pancreas , and central nervous system
some health issues that , when coupled with the above symptoms of Down syndrome , become symptoms as wellcan ... causesome health issues that , when coupled with the above symptoms of Down syndrome , become symptoms as well