Sporadic case of trichorhinophalangeal syndrome type III in a European patient
✍ Scribed by Vilain, Catheline; Sznajer, Yves; Rypens, Fran�oise; D�sir, Daniel; Abramowicz, Marc J.
- Publisher
- John Wiley and Sons
- Year
- 1999
- Tongue
- English
- Weight
- 11 KB
- Volume
- 85
- Category
- Article
- ISSN
- 0148-7299
- DOI
- 10.1002/(sici)1096-8628(19990827)85:5<495::aid-ajmg12>3.0.co;2-k
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✦ Synopsis
including sparse hair, a "pearshaped" nose, osteodysplasia with coneshaped epiphyses, and autosomal dominant inheritance, but is distinguished by the presence of severe brachydactyly. TRP III was first described in 1984
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