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J Pediatr Genet 2017; 06(03): 177-180
DOI: 10.1055/s-0037-1599201
DOI: 10.1055/s-0037-1599201
Case Report
Severe Form of Brachydactyly Type A1 in a Child with a c.298G > A Mutation in IHH Gene
Further Information
Publication History
13 October 2016
23 January 2017
Publication Date:
07 March 2017 (online)
Abstract
Brachydactyly type A1 (BDA1) is characterized by short middle phalanges. We report the case of a child with a severe form of BDA1 with complete absence of the middle phalanges of all extremities. He had c.298G > A (p.D100N) mutation in IHH gene.
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