the disease ... the mutated genescauseMajeed Syndrome
a germline mutation in the PTCH gene(passive) is caused byGorlin syndrome
in which mutations are knownto causeGorlin syndrome
mutations in PTCH1(passive) is caused byGorlin syndrome
PTCH1 mutations(passive) is caused byGorlin syndrome
any drugcausingENGRAFTMENT SYNDROME
changes or mutations in the JAG1 and NOTCH2 genes(passive) is caused byAlagille syndrome
mutations or defects in the JAG1 and NOTCH2 genes(passive) is caused byAlagille syndrome
one copy of the mutated gene sufficient enoughto causeGorlin syndrome
mutations human Jagged1 , which encodes a ligand for Notch 1(passive) is caused byAlagille syndrome
mutations in human Jagged1 , which encodes a ligand for Notch1(passive) is caused byAlagille syndrome
mutation of the SCN4A sodium channel(passive) caused byMyasthenic syndrome
a mutation in JAG1 or Notch2 gene(passive) is caused byAlagille syndrome
changes , or mutations(passive) is caused byAlagille syndrome
Molecular pathology Defects of SLC12A6 , which encodes a transmembrane potassium and chloride cotransportercauseAndermann syndrome
The Jag1 mutations associated withleadAlagille syndrome
gene mutations(passive) are caused byDifferentiation defect
mutations in JAGGED1 or NOTCH2(passive) is caused byAlagille syndrome
mutations in JAG1 ( seen in 94 % ) and NOTCH2 ( seen in 1 % ) genes(passive) is caused byAlagille syndrome
the genecausesAlagille syndrome
hereditary or spontaneous mutations in JAG1 or NOTCH2 on chromosome 20(passive) is caused byAlagille syndrome
by NOTCH2 mutation(passive) caused byAlagille syndrome
a gene transformation , or defect(passive) caused byAlagille syndrome
Mutations in NOTCH2 ... much less likelyto causeAlagille syndrome
Gene mutationscauseAlagille syndrome
The gene mutationcausesAlagille syndrome
to be affectedto causeAlagille syndrome
cholestasis(passive) caused byAlagille syndrome
a genetic defect that happens when there is a mutation ( permanent change ) in the DNA sequence of your child(passive) is caused byAlagille syndrome
defects in genes involved in the Notch signaling pathway(passive) is caused byAlagille syndrome
four ... and(passive) caused byfour ... and
his deathcausedhis death
clots on my lungs and behind my eyescausingclots on my lungs and behind my eyes
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
painful knees and foot deformitiescausingpainful knees and foot deformities
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
to many cases of delay or aggravationleadsto many cases of delay or aggravation
skeletal abnormalities and skin cancercausesskeletal abnormalities and skin cancer
extensive deterioration in the quality of lifecausesextensive deterioration in the quality of life
to a narrow vision , which results in ineffective managerialleadsto a narrow vision , which results in ineffective managerial
problems in the liver , heart , eyes , spine , and kidneyscausesproblems in the liver , heart , eyes , spine , and kidneys
chronic anemia , and anemia(passive) caused bychronic anemia , and anemia
to acute leukemiacould leadto acute leukemia
to leukemiacan leadto leukemia
to leukemialeadsto leukemia
usuallycausesusually
the pressure in the pulmonary artery to increasecausesthe pressure in the pulmonary artery to increase
ineffective production of blood cellscausesineffective production of blood cells
neutropeniacan causeneutropenia
to misunderstandings about their diseasemay leadto misunderstandings about their disease
cells to be irregular shapescausescells to be irregular shapes
alsocan ... causealso
in livercan resultin liver
to acute myeloid leukemia ( AMLleadto acute myeloid leukemia ( AML
to AMLcan ... leadto AML
problems with the bile ductscausesproblems with the bile ducts
high blood pressure in the blood vessel that carries blood to the lungscauseshigh blood pressure in the blood vessel that carries blood to the lungs
the liver damage(passive) caused bythe liver damage
narrowing or bulging of other blood vessels in the bodycan also causenarrowing or bulging of other blood vessels in the body
in a K - Cl cotransporter protein that is shortened and nonfunctionalresultin a K - Cl cotransporter protein that is shortened and nonfunctional
progressive destruction of the bile ductscausesprogressive destruction of the bile ducts
from benzene exposureresultingfrom benzene exposure
from heterogeneous gene mutations , including mutations in JAG1 on CHROMOSOME 20may resultfrom heterogeneous gene mutations , including mutations in JAG1 on CHROMOSOME 20
narrowing ( stenosis ) or bulging ( aneurysm ) of other blood vessels in the bodycan also causenarrowing ( stenosis ) or bulging ( aneurysm ) of other blood vessels in the body