lipoid congenital adrenal hyperplasia

lipoid congenital adrenal hyperplasia

Item
http://www.wikidata.org/entity/Q4262866
Q18457031
sameAs
Phenotypic variations in lipoid congenital adrenal hyperplasiaLipoid congenital adrenal hyperplasia (CAH): patient report and a mini-review.A case report of pedigree of a homozygous mutation of the steroidogenic acute regulatory protein causing lipoid congenital adrenal hyperplasia.Lipoid congenital adrenal hyperplasia by steroidogenic acute regulatory protein (STAR) gene mutation in an Italian infant: an uncommon cause of adrenal insufficiency.A case of lipoid congenital adrenal hyperplasia presenting with cholestasis.Lipoid congenital adrenal hyperplasia due to STAR mutations in a Caucasian patient.Identification of novel mutations in STAR gene in patients with lipoid congenital adrenal hyperplasia: a first report from India.Thirty-Eight-Year Follow-Up of Two Sibling Lipoid Congenital Adrenal Hyperplasia Patients Due to Homozygous Steroidogenic Acute Regulatory (STARD1) Protein Mutation. Molecular Structure and Modeling of the STARD1 L275P Mutation.Functional and physiological consequences of StAR deficiency: role in lipoid congenital adrenal hyperplasia.Polycystic ovaries and adrenal insufficiency in a young pubescent female with lipoid congenital adrenal hyperplasia due to splice mutation of the StAR gene: a case report and review of the literature.STAR splicing mutations cause the severe phenotype of lipoid congenital adrenal hyperplasia: insights from a novel splice mutation and review of reported cases.Molecular and structural analysis of two novel StAR mutations in patients with lipoid congenital adrenal hyperplasia.Alu Sx repeat-induced homozygous deletion of the StAR gene causes lipoid congenital adrenal hyperplasia.Gonadal function, first cases of pregnancy, and child delivery in a woman with lipoid congenital adrenal hyperplasia.The novel mutation p.Trp147Arg of the steroidogenic acute regulatory protein causes classic lipoid congenital adrenal hyperplasia with adrenal insufficiency and 46,XY disorder of sex development.Atypical presentation and novel star protein gene mutation in a 46,XY female with lipoid congenital adrenal hyperplasia.Lipoid congenital adrenal hyperplasia: pathologic features of the testis.
P921

lipoid congenital adrenal hyperplasia

Item
http://www.wikidata.org/entity/Q4262866
name
Kongenitale lipoide Nebennierenhyperplasie durch STAR-Mangel
@de
hyperplasie congénitale lipoïde des surrénales
@fr
lipoid congenital adrenal hyperplasia
@en
Липоидная врождённая гиперплазия надпочечников
@ru
リポイド過形成症
@ja
type
label
Kongenitale lipoide Nebennierenhyperplasie durch STAR-Mangel
@de
hyperplasie congénitale lipoïde des surrénales
@fr
lipoid congenital adrenal hyperplasia
@en
Липоидная врождённая гиперплазия надпочечников
@ru
リポイド過形成症
@ja
altLabel
LCAH
@en
adrenal hyperplasia 1
@en
adrenal hyperplasia I
@en
Липоидная гиперплазия надпочечников
@ru
prefLabel
Kongenitale lipoide Nebennierenhyperplasie durch STAR-Mangel
@de
hyperplasie congénitale lipoïde des surrénales
@fr
lipoid congenital adrenal hyperplasia
@en
Липоидная врождённая гиперплазия надпочечников
@ru
リポイド過形成症
@ja
P1550
P279
P31
P486
P492
P557
P6366
P486
P6366
P1550
P279
P31
P486
P492
P557
P6366