A Novel De Novo GATA Binding Protein 3 Mutation in a Turkish Boy with Hypoparathyroidism, Deafness, and Renal Dysplasia Syndrome

Hypoparathyroidism, deafness, and renal dysplasia (HDR; OMIM 146255) syndrome is a rare disease, inherited dominantly and found to be related with GATA3 (GATA binding protein 3) gene mutations. A 13-year and 8-month-old boy who presented with hypocalcemia was diagnosed with hypoparathyroidism. He al...

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Detalles Bibliográficos
Autores principales: Yeşiltepe Mutlu, Gül, Kırmızıbekmez, Heves, Nakamura, Akie, Fukami, Maki, Hatun, Şükrü
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Galenos Publishing 2015
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4805226/
https://www.ncbi.nlm.nih.gov/pubmed/26777049
http://dx.doi.org/10.4274/jcrpe.2249

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4805226/
https://www.ncbi.nlm.nih.gov/pubmed/26777049
http://dx.doi.org/10.4274/jcrpe.2249

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