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Article

Atypical presentation and novel star protein gene mutation in a 46,XY female with lipoid congenital adrenal hyperplasia.

Advances in experimental medicine and biology - 1 Jan 2011

Lekarev Oksana, Morel Yves, New Maria I

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Share to Adrenal Hyperplasia, Congenital
Share to Disorder of Sex Development, 46,XY
Share to Mutation
Share to Phosphoproteins

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Steroidogenic Acute Regulatory Protein

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Identifiers

PMID: 21691971
DOI: 10.1007/978-1-4419-8002-1_29

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Atypical presentation and novel star protein gene mutation in a 46,XY female with lipoid congenital adrenal hyperplasia.PMID 21691971Read ↗

STAR gene mutation in a patient with congenital lipoid adrenal hyperplasia.Semantic proximity Read ↗

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Identification of novel mutations in STAR gene in patients with lipoid congenital adrenal hyperplasia: a first report from India.Semantic proximity Read ↗

Steroidogenic acute regulatory protein (STAR) deficiency: Our experience and systematic review for phenotype-genotype correlation.Semantic proximity Read ↗

Lipoid congenital adrenal hyperplasia by steroidogenic acute regulatory protein (STAR) gene mutation in an Italian infant: an uncommon cause of adrenal insufficiency.Semantic proximity Read ↗

Single-Center Experience in Five Patients Diagnosed with Lipoid Congenital Adrenal Hyperplasia due to Steroidogenic Acute Regulatory Protein (STAR) Gene Variants: A Rare Cause of Adrenal InsufficiencySemantic proximity Read ↗

[Clinical features and StAR gene mutations in children with congenital lipoid adrenal hyperplasia].Semantic proximity Read ↗

STAR splicing mutations cause the severe phenotype of lipoid congenital adrenal hyperplasia: insights from a novel splice mutation and review of reported cases.Semantic proximity Read ↗

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