Article
Collagen XI sequence variations in nonsyndromic cleft palate, Robin sequence and micrognathia.
European journal of human genetics : EJHG - 1 Mar 2003
Melkoniemi Miia, Koillinen Hannele, Männikkö Minna, Warman Matthew L, Pihlajamaa Tero, Kääriäinen Helena, Rautio Jorma, Hukki Jyri, Stofko Joseph A, Cisneros George J, Krakow Deborah, Cohn Daniel H, Kere Juha, Ala-Kokko Leena
Abstract excerpt
Cleft palate is a common birth defect, but its etiopathogenesis is mostly unknown. Several studies have shown that cleft palate has a strong genetic component. Robin sequence consists of three of the following four findings: micrognathia, glossoptosis, obstructive apnea, and cleft palate. While cleft palate is mainly nonsyndromic, about 80 percent of Robin sequence cases are associated with syndromes. Mutations...
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