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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Detalles Bibliográficos
Autores principales: Turan, Hande, Dağdeviren Çakır, Aydilek, Özer, Yavuz, Tarçın, Gürkan, Özcabi, Bahar, Ceylaner, Serdar, Ercan, Oya, Evliyaoğlu, Saadet Olcay
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Galenos Publishing 2021
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8186340/
https://www.ncbi.nlm.nih.gov/pubmed/32539318
http://dx.doi.org/10.4274/jcrpe.galenos.2020.2019.0216

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8186340/
https://www.ncbi.nlm.nih.gov/pubmed/32539318
http://dx.doi.org/10.4274/jcrpe.galenos.2020.2019.0216

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