A rare variant in the FHL1 gene associated with X-linked recessive hypoparathyroidism

Isolated familial hypoparathyroidism is an extremely rare disorder, which to date has been linked to several loci including mutations in CASR, GCM2, and PTH, as well as a rare condition defined as X-linked recessive hypoparathyroidism, previously associated with a 1.5 Mb region on Xq26-q27. Here, we...

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Detalles Bibliográficos
Autores principales: Pillar, Nir, Pleniceanu, Oren, Fang, Mingyan, Ziv, Limor, Lahav, Einat, Botchan, Shay, Cheng, Le, Dekel, Benjamin, Shomron, Noam
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Springer Berlin Heidelberg 2017
Materias:
Original Investigation
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5487855/
https://www.ncbi.nlm.nih.gov/pubmed/28444561
http://dx.doi.org/10.1007/s00439-017-1804-9

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5487855/
https://www.ncbi.nlm.nih.gov/pubmed/28444561
http://dx.doi.org/10.1007/s00439-017-1804-9

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