Cargando…
Mutation detection of CYP21A2 gene in nonclassical congenital adrenal hyperplasia patients with premature pubarche
BACKGROUND: Congenital adrenal hyperplasia (CAH) due to mutations in the gene encoding 21-hydroxilase is one of common disease with an autosomal recessive form. In this study, our aim is to detect the prevalence of eight common mutations in nonclassical congenital adrenal hyperplasia (NCAH). MATERIA...
Autores principales: | Kolahdouz, Mahsa, Hashemipour, Mahin, Khanahmad, Hossein, Rabbani, Bahareh, Salehi, Mansoor, Rabbani, Ali, Ansari, Arman, Naseri, Mona Mobalegh |
---|---|
Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Medknow Publications & Media Pvt Ltd
2016
|
Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4815525/ https://www.ncbi.nlm.nih.gov/pubmed/27099846 http://dx.doi.org/10.4103/2277-9175.178794 |
Ejemplares similares
-
Premature pubarche in an infant: nonclassical congenital adrenal hyperplasia
or mini-puberty variant?
por: Grob, Francisca, et al.
Publicado: (2017) -
Prevalence of Nonclassic Congenital Adrenal Hyperplasia in Turkish Children Presenting with Premature Pubarche, Hirsutism, or Oligomenorrhoea
por: Binay, Cigdem, et al.
Publicado: (2014) -
p.Gln318X and p.Val281Leu as the Major Variants of CYP21A2 Gene in Children with Idiopathic Premature Pubarche
por: Soveizi, Mahdieh, et al.
Publicado: (2020) -
Pitfalls in molecular diagnosis of 21-hydroxylase deficiency in congenital adrenal hyperplasia
por: Kolahdouz, Mahsa, et al.
Publicado: (2015) -
Nonclassic Congenital Adrenal Hyperplasia
por: Witchel, Selma Feldman, et al.
Publicado: (2010)