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

Internet

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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