Article
Craniofacial expression of human and murine TBX22 correlates with the cleft palate and ankyloglossia phenotype observed in CPX patients.
Human molecular genetics - 15 Oct 2002
Braybrook Claire, Lisgo Steven, Doudney Kit, Henderson Deborah, Marçano Ana Carolina B, Strachan Tom, Patton Michael A, Villard Laurent, Moore Gudrun E, Stanier Philip, Lindsay Susan
Abstract excerpt
Cleft palate with ankyloglossia (CPX; MIM 303400) is inherited as a Mendelian, semidominant X-linked disorder and has been described in several large families from different ethnic origins. It is a useful genetic model for non-syndromic cleft palate, a common congenital disorder. Recently, the underlying genetic defect in CPX was identified, where unique mutations were found in the T-box-containing transcription...
Topics
- Amino Acid Sequence
- Animals
- Base Sequence
- Cleft Palate
- DNA
- Female
- Gene Expression Regulation, Developmental
- Humans
- Lingual Frenum
- Male