Article
A rare variant in the FHL1 gene associated with X-linked recessive hypoparathyroidism.
Human genetics - 1 Jul 2017
Pillar Nir, Pleniceanu Oren, Fang Mingyan, Ziv Limor, Lahav Einat, Botchan Shay, Cheng Le, Dekel Benjamin, Shomron Noam
Abstract excerpt
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 report a patient with hypocalcemia-induced seizures leading to the diagnosis of primary hypoparathyroidism....
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