Article
Identification of a HOXD13 mutation in a VACTERL patient.
American journal of medical genetics. Part A - 15 Dec 2008
Garcia-Barceló Maria-Mercè, Wong Kenneth Kak-yuen, Lui Vincent Chi-hang, Yuan Zhen-wei, So Man-ting, Ngan Elly Sau-wai, Miao Xiao-ping, Chung Patrick Ho-yu, Khong Pek-lan, Tam Paul Kwong-hang
Abstract excerpt
VACTERL acronym is assigned to a non-random association of malformations in humans with poorly known etiology. It is comprised of vertebral defects (V), anal atresia (A), cardiac anomaly (C), tracheoesophageal fistula with esophageal atresia (TE), renal dysplasia (R) and limb lesions (L). Here, we report on, for the first time, a female patient with VACTERL association with a 21 base-pair deletion in the exon 1...
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