Familiar inheritance of X-linked Congenital Adrenal Hypoplasia: even genetic counseling may sometimes fail!

Congenital Adrenal hypoplasia (CAH) is a rare genetic disorder which can present two distinct modalities of transmission: recessive X-linked or recessive autosomal modality. That linked to the X chromosome is generally associated with hypogonadotropic hypogonadism (HH). In this case, the gene respon...

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Bibliographic Details
Main Authors: Laura Cannavò, Simona Santucci, Malgorzata Wasniewska, Filippo De Luca
Format: Article
Language:English
Published: Accademia Peloritana dei Pericolanti 2017-06-01
Series:Atti della Accademia Peloritana dei Pericolanti - Classe di Scienze Medico-Biologiche
Subjects:
Online Access:http://cab.unime.it/journals/index.php/APMB/article/view/1548