Clinical and Genetic Characteristics of Patients with Corticosterone Methyloxidase Deficiency Type 2: Novel Mutations in CYP11B2

Corticosterone methyloxidase deficiency type 2 is an autosomal recessive disorder presenting with salt loss and failure to thrive in early childhood and is caused by inactivating mutations of the CYP11B2 gene. Herein, we describe four Turkish patients from two families who had clinical and hormonal...

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Detalhes bibliográficos

Principais autores:	Hande Turan, Aydilek Dağdeviren Çakır, Yavuz Özer, Gürkan Tarçın, Bahar Özcabi, Serdar Ceylaner, Oya Ercan, Saadet Olcay Evliyaoğlu
Formato:	Artigo
Idioma:	Inglês
Publicado em:	Pediatric Endocrinology and Diabetes Society 2021-06-01
coleção:	JCRPE
Assuntos:	aldosterone synthase deficiency salt wasting cyp11b2 gene corticosterone methyloxidase type 2 failure to thrive
Acesso em linha:	http://www.jcrpe.org/archives/archive-detail/article-preview/clinical-and-genetic-characteristics-of-patients-w/38659
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