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Gene for DiGeorge syndrome
Haploinsufficiency of the murine TBX1 gene causes cardiovascular defects similar to features of human DiGeorge syndrome.
Email: Jonathan Weitzman - jonathanweitzman@hotmail.com News from The Scientist 2001, 2(1):20010227-02
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DiGeorge syndrome (DGS; also known as Velo-cardio-facial syndrome) is associated with hemizygous deletion of a region of human chromosome 22q11, causing a range of abnormalities including cardiovascular defects, hypoplasia of the thymus and parathyroid gland, and craniofacial abnormalities.
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