X-linked adrenal hypoplasia congenita: clinical and follow-up findings of two kindreds, one with a novel NR0B1 mutation

X-linked adrenal hypoplasia congenita typically manifests as primary adrenal insufficiency in the newborn age and hypogonadotropic hypogonadism in males, being caused by mutations in NR0B1 gene. We present the clinical and follow-up findings of two kindreds with NR0B1 mutations. The proband of kindr...

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Principais autores:	Bernardo Dias Pereira, Iris Pereira, Jorge Ralha Portugal, João Gonçalves, Luísa Raimundo
Format:	Artigo
Jezik:	Inglês
Izdano:	Sociedade Brasileira de Endocrinologia e Metabologia
Serija:	Archives of Endocrinology and Metabolism
Online dostop:	http://www.scielo.br/scielo.php?script=sci_arttext&pid=S2359-39972015000200181&lng=en&tlng=en
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