Article
Missense mutation in the paired domain of PAX3 causes craniofacial-deafness-hand syndrome.
Human mutation - 1 Jan 1996
Asher J H, Sommer A, Morell R, Friedman T B
Abstract excerpt
Craniofacial-deafness-hand 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 movement...
Topics
- Amino Acid Sequence
- Base Sequence
- DNA-Binding Proteins
- Deafness
- Facial Bones
- Female
- Frameshift Mutation
- Hand Deformities, Congenital
- Humans
- Male
- Molecular Sequence Data
- Mutation
- PAX3 Transcription Factor
- Paired Box Transcription Factors
- Polymerase Chain Reaction
- Polymorphism, Single-Stranded Conformational
- Sequence Alignment
- Sequence Deletion