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...
Main Authors: | Bowl, MR, Nesbit, M, Harding, B, Levy, E, Jefferson, A, Volpi, E, Rizzoti, K, Lovell-Badge, R, Schlessinger, D, Whyte, M, Thakker, R |
---|---|
Format: | Journal article |
Language: | English |
Published: |
2005
|
Similar Items
-
X-linked recessive hypoparathyroidism is caused by a molecular deletional-insertion involving chromosomes Xq27 and 2p25.
by: Bowl, MR, et al.
Published: (2001) -
X-linked hypoparathyroidism region on Xq27 is evolutionarily conserved with regions on 3q26 and 13q34 and contains a novel P-type ATPase.
by: Andrew Nesbit, M, et al.
Published: (2004) -
Studies of mice deleted for Sox3 and uc482: Relevance to X-linked hypoparathyroidism
by: Gaynor, KU, et al.
Published: (2020) -
Genetic mapping studies of the X-linked recessive hypoparathyroid gene on the X chromosome (Xq27).
by: Dixon, P, et al.
Published: (1996) -
Physical map of the Xq27 candidate region for X-linked recessive hypoparathyroidism in two kindreds merged by mitochondrial DNA analysis
by: Mumm, S, et al.
Published: (1996)