Article
Sequence variants in the HLX gene at chromosome 1q41-1q42 in patients with diaphragmatic hernia.
Clinical genetics - 1 May 2009
Slavotinek A M, Moshrefi A, Lopez Jiminez N, Chao R, Mendell A, Shaw G M, Pennacchio L A, Bates M D
Abstract excerpt
Congenital diaphragmatic hernia (CDH) is a common birth defect for which few causative genes have been identified. Several candidate regions containing genes necessary for normal diaphragm development have been identified, including a 4-5 Mb deleted region at chromosome 1q41-1q42 from which the c...
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