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A novel missense mutation in the paired domain of PAX9 causes non-syndromic oligodontia

✍ Scribed by Dolrudee Jumlongras; Jenn-Yih Lin; Anas Chapra; ChristineE. Seidman; JonathanG. Seidman; RichardL. Maas; BjornR. Olsen


Book ID
106133936
Publisher
Springer
Year
2004
Tongue
English
Weight
340 KB
Volume
114
Category
Article
ISSN
0340-6717

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Missense mutation in the paired domain o
✍ James H. Asher Jr.; Annemarie Sommer; Robert Morell; Thomas B. Friedman πŸ“‚ Article πŸ“… 1996 πŸ› John Wiley and Sons 🌐 English βš– 601 KB

## Semmzu Craniofacial-deafnesshand syndrome (MIM 122880) is inherited as an autosomal dominant mutation characterized by the absence or hypoplasia of the nasal bones, profound sensorineural deafness, a small and short nose with slitlike nares, hypertelorism, short palpebral fissures, and limited