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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Detaylı Bibliyografya
Yayımlandı:J Clin Res Pediatr Endocrinol
Asıl Yazarlar: Turan, Hande, Dağdeviren Çakır, Aydilek, Özer, Yavuz, Tarçın, Gürkan, Özcabi, Bahar, Ceylaner, Serdar, Ercan, Oya, Evliyaoğlu, Saadet Olcay
Materyal Türü: Artigo
Dil:Inglês
Baskı/Yayın Bilgisi: Galenos Publishing 2021
Konular:
Case Report
Online Erişim:https://ncbi.nlm.nih.gov/pmc/articles/PMC8186340/
https://ncbi.nlm.nih.gov/pubmed/32539318
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.4274/jcrpe.galenos.2020.2019.0216
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