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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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