Article
Mutational analysis of SHH and GLI3 in anorectal malformations.
Birth defects research. Part A, Clinical and molecular teratology - 1 Sept 2008
Garcia-Barceló Maria-Mercè, Chi-Hang Lui Vincent, Miao Xiaoping, So Man-ting, Yuk-yu Leon Thomas, Yuan Zhen-wei, Li Long, Liu Lei, Wang Bin, Sun Xiao-bing, Huang Liu-Ming, Tou Jin-fa, Sau-wai Ngan Elly, Cherny Stacey S, Chan Kin-wai, Lee Kim-hung, Wang Weiling, Kak-yuen Wong Kenneth, Kwong-hang Tam Paul
Abstract excerpt
BACKGROUND: Anorectal malformations (congenital absence of the anal opening) are among the most common pediatric surgical problems and carry a significant chronic morbidity. METHODS: Direct sequencing was used to screen 88 anorectal malformations patients for mutations and polymorphisms in SHH and GLI3. These genes were chosen according to the phenotype presented by mutant mice and their expression patterns....
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