An interstitial deletion-insertion involving chromosomes 2p25.3 and Xq27.1, near SOX3, causes X-linked recessive hypoparathyroidism.

X-linked recessive hypoparathyroidism, due to parathyroid agenesis, has been mapped to a 906-kb region on Xq27 that contains 3 genes (ATP11C, U7snRNA, and SOX3), and analyses have not revealed mutations. We therefore characterized this region by combined analysis of single nucleotide polymorphisms a...

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Λεπτομέρειες βιβλιογραφικής εγγραφής
Κύριοι συγγραφείς: Bowl, MR, Nesbit, M, Harding, B, Levy, E, Jefferson, A, Volpi, E, Rizzoti, K, Lovell-Badge, R, Schlessinger, D, Whyte, M, Thakker, R
Μορφή: Journal article
Γλώσσα:English
Έκδοση: 2005