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Central precocious puberty in a patient with X-linked adrenal hypoplasia congenita and Xp21 contiguous gene deletion syndrome

X-linked adrenal hypoplasia congenita is caused by the mutation of DAX-1 gene (dosage-sensitive sex reversal, adrenal hypoplasia critical region, on chromosome X, gene 1), and can occur as part of a contiguous gene deletion syndrome in association with glycerol kinase (GK) deficiency, Duchenne muscu...

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Detalles Bibliográficos
Autores principales: Koh, Ji Won, Kang, So Young, Kim, Gu Hwan, Yoo, Han Wook, Yu, Jeesuk
Formato: Online Artículo Texto
Lenguaje:English
Publicado: The Korean Society of Pediatric Endocrinology 2013
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4027096/
https://www.ncbi.nlm.nih.gov/pubmed/24904859
http://dx.doi.org/10.6065/apem.2013.18.2.90