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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Main Authors: Hande Turan, Aydilek Dağdeviren Çakır, Yavuz Özer, Gürkan Tarçın, Bahar Özcabi, Serdar Ceylaner, Oya Ercan, Saadet Olcay Evliyaoğlu
Format: Artigo
Sprog:Inglês
Udgivet: Pediatric Endocrinology and Diabetes Society 2021-06-01
Serier:JCRPE
Fag:
aldosterone synthase deficiency
salt wasting
cyp11b2 gene
corticosterone methyloxidase type 2
failure to thrive
Online adgang: http://www.jcrpe.org/archives/archive-detail/article-preview/clinical-and-genetic-characteristics-of-patients-w/38659
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