Loading ...
germline mutations in the NF1 tumor suppressor , which encodes neurofibromin(passive) is caused byNF1 ) syndrome
by a hemodynamically significant PFO(passive) can be caused byPlatypnea - orthodeoxia syndrome
a hemodynamically significant PFO(passive) can be caused byPlatypnea - orthodeoxia syndrome
a viral infectioncan causesTzeites syndrome
by a mutation of the cardiac sodium channel encoded by the SCN5A gene(passive) is causedBrugada syndrome
mutations to GRIN2A(passive) is caused byLandau - Kleffner syndrome
a mutation in the SCN5A genecan causeBrugada syndrome
a germline mutation in the PTCH gene(passive) is caused byGorlin syndrome
Novel mutations in GJA1causeoculodentodigital syndrome
Mutations in the PTCH1 genecauseGorlin syndrome
A novel missense mutation , I890 T , in the pore region of cardiac sodium channelcausesBrugada syndrome
in which mutations are knownto causeGorlin syndrome
mutations in SCN5Acan causeBrugada syndrome
SCN5A genecausingBrugada syndrome
mutations in PTCH1(passive) is caused byGorlin syndrome
PTCH1 mutations(passive) is caused byGorlin syndrome
an abnormality in the sodium channel(passive) is usually caused byBrugada syndrome
To date , only ion channel genes had been shownto causeBrugada syndrome
SCN5A ... the most well known responsible genecausesBrugada syndrome
one copy of the mutated gene sufficient enoughto causeGorlin syndrome
genecausingBrugada syndrome
a sodium channel mutation and results in episodes of VF and sudden cardiac death(passive) is caused byBrugada syndrome
the black sun 's rays(passive) caused bycuvier syndrome
by the black sun 's rays(passive) caused bycuvier syndrome
the faulty genescausesBrugada syndrome
a problem with the genes(passive) is caused byBrugada syndrome
Mutations in SLMAPmay causeBrugada syndrome
I890 T , in the pore region of cardiac sodium channelcausesBrugada syndrome
a faulty gene that 's inherited by a child from a parent(passive) is usually caused byBrugada syndrome
Mutations in DICER1 are knownto causeDICER1 syndrome
a genetic alteration(passive) is caused byBrugada Syndrome
by a diffuse brainstem glioma(passive) caused byBrissaud - Sicard syndrome
A mutation in the glycerol-3-phosphate dehydrogenase 1-like gene ( GPD1LcausesBrugada syndrome
RTEL1 mutationcausesHoyeraal - Hreidarsson syndrome
We simultaneously sequence 13 genes knownto causeBrugada syndrome
changes in a gene called SUFUcauseGorlin syndrome
defect in the heart cells that make your heart beat(passive) is caused byBrugada syndrome
mutations in any of several genes(passive) may be caused bySwyer syndrome
a genetic channelopathy(passive) is caused byBrugada syndrome
Gain of function is believedto causeBrugada Syndrome
to gastric outlet obstructionleadingto gastric outlet obstruction
overproduction of uric acidcauseoverproduction of uric acid
hundreds of basal cell tumors to develop over their lifetimecauseshundreds of basal cell tumors to develop over their lifetime
basal cell carcinomascausesbasal cell carcinomas
basal cell cancerscausesbasal cell cancers
seizures and resultscausesseizures and results
accelerated growth in other parts of the body as wellcan causeaccelerated growth in other parts of the body as well
people to bite themselvesmay causepeople to bite themselves
from heterozygous mutations in the PTCH1 generesultsfrom heterozygous mutations in the PTCH1 gene
an increased risk of developing cancers of the skincausesan increased risk of developing cancers of the skin
an increased risk of developing cancers of the skin andcausesan increased risk of developing cancers of the skin and
alsocausesalso
skeletal abnormalities and skin cancercausesskeletal abnormalities and skin cancer
to childhood gout or adenosine phosphoribosyltransferase deficiencyleadingto childhood gout or adenosine phosphoribosyltransferase deficiency
to a hole in the abdomencan leadto a hole in the abdomen
extensive deterioration in the quality of lifecausesextensive deterioration in the quality of life
in abnormal heartbeat , fainting , heart attack , and sudden deathmay resultin abnormal heartbeat , fainting , heart attack , and sudden death
deathmay causedeath
fainting and a rapid heart rhythm that can lead to sudden cardiac deathcausesfainting and a rapid heart rhythm that can lead to sudden cardiac death
droopy upper eyelidscausesdroopy upper eyelids
in ventricular fibrillation and potentially deathcan resultin ventricular fibrillation and potentially death
to sudden deathcan leadto sudden death
sudden deathcausessudden death
sudden deathcan causesudden death
to sudden deathmay leadto sudden death
fainting or sudden cardiac deathmay causefainting or sudden cardiac death
to an increased risk of sudden cardiac deathleadsto an increased risk of sudden cardiac death
anemia(passive) caused byanemia
in fatal arrhythmia and sudden cardiac deathresultingin fatal arrhythmia and sudden cardiac death
fainting andcausesfainting and
Sudden Cardiac Deathcan causeSudden Cardiac Death
a disruptioncausesa disruption
cardiac arrestcan causecardiac arrest
Cardiac ArrestcausingCardiac Arrest
the arrhythmias(passive) caused bythe arrhythmias
to leukemialedto leukemia
a specific disruptioncausesa specific disruption
dangerouscausingdangerous
ventricular fibrillationcausesventricular fibrillation
to acute myeloid leukemialeadingto acute myeloid leukemia