A Neonatal Case of Autosomal Dominant Hypoparathyroidism without Mutation of the CASR Gene

We experienced a case of familial hypoparathyroidism with an autosomal dominant pattern of transmission and performed molecular analysis of the calcium-sensing receptor (CASR) gene. The patient was a female neonate, born by cesarean section at term because of breech presentation. Her mother had been...

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Detalles Bibliográficos
Autores principales: Miyata, Ichiro, Yoshikawa, Hideki, Kurokawa, Naokiyo, Kanno, Kei-ichi, Hayashi, Yoshihiro, Eto, Yoshikatsu
Formato: Online Artículo Texto
Lenguaje:English
Publicado: The Japanese Society for Pediatric Endocrinology 2008
Materias:
Original
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4004876/
https://www.ncbi.nlm.nih.gov/pubmed/24790357
http://dx.doi.org/10.1297/cpe.17.17

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4004876/
https://www.ncbi.nlm.nih.gov/pubmed/24790357
http://dx.doi.org/10.1297/cpe.17.17

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