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J Pediatr Genet 2017; 06(03): 177-180
DOI: 10.1055/s-0037-1599201
Case Report
Georg Thieme Verlag KG Stuttgart · New York

Severe Form of Brachydactyly Type A1 in a Child with a c.298G > A Mutation in IHH Gene

Smrithi Salian
1   Department of Medical Genetics, Kasturba Medical College, Manipal University, Manipal, India
,
Anju Shukla
1   Department of Medical Genetics, Kasturba Medical College, Manipal University, Manipal, India
,
Gen Nishimura
2   Department of Pediatric Imaging, Tokyo Metropolitan Children's Medical Center, Tokyo, Japan
,
Katta M. Girisha
1   Department of Medical Genetics, Kasturba Medical College, Manipal University, Manipal, India
› Author Affiliations
Further Information

Publication History

13 October 2016

23 January 2017

Publication Date:
07 March 2017 (online)

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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.

Keywords

brachydactyly type A - GDF5 - IHH
 

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