MSX1 mutation is associated with orofacial clefting and tooth agenesis in humans
✍ Scribed by van den Boogaard, Marie-José H.; Dorland, Marinus; Beemer, Frits A.; van Amstel, Hans Kristian Ploos
- Book ID
- 109827903
- Publisher
- Nature Publishing Group
- Year
- 2000
- Tongue
- English
- Weight
- 232 KB
- Volume
- 24
- Category
- Article
- ISSN
- 1061-4036
- DOI
- 10.1038/74155
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## Abstract We selected 262 case‐parent triads from a population‐based study of orofacial clefts in Norway, and examined variants of developmental genes __TGFA, TGFB3__, and __MSX1__ in the etiology of orofacial clefts. One hundred seventy‐four triads of cleft lip cases (CL±P) and 88 triads of clef
## Abstract Mutations in sterile alpha motif (SAM) domain of TP63 have been reported to be associated with ankyloblepharon‐ectodermal dysplasia‐cleft lip/palate syndrome and Rapp‐Hodgkin syndrome. SAM domain, a protein–protein interaction module, is found in cytoplasmic signaling proteins and sever