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Identification of Novel Mutations in STAR Gene in Patients with Lipoid Congenital Adrenal Hyperplasia: A First Report from India

Lipoid congenital adrenal hyperplasia (LCAH), a rare disorder of steroid biosynthesis, is the most severe form of CAH. We report novel molecular findings of three unrelated infants with LCAH diagnosed at our center. A known missense mutation c.653C>T (p.A218V) and two novel mutations [premature t...

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Detalles Bibliográficos
Autores principales:	Vasudevan, Lakshmi, Joshi, Rajesh, Kumar Das, Dhanjit, Rao, Sudha, Sanghavi, Daksha, Babu, Shiny, Tamhankar, Parag M.
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Galenos Publishing 2013
Materias:	Rapid Communication
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3701918/ https://www.ncbi.nlm.nih.gov/pubmed/23748066 http://dx.doi.org/10.4274/Jcrpe.927

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