Severe form of brachydactyly type A1 in a child with a c.298G > A mutation in IHH gene

Salian, Smrithi and Shukla, Anju and Girisha, KM (2017) Severe form of brachydactyly type A1 in a child with a c.298G > A mutation in IHH gene. Journal of Pediatric Genetics, 6 (3). pp. 177-180. ISSN 2146-4596

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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.

Item Type: Article
Uncontrolled Keywords: Brachydactyly type A; GDF5; IHH.
Subjects: Medicine > KMC Manipal > Paediatrics
Depositing User: KMC Library
Date Deposited: 24 Aug 2017 11:02
Last Modified: 24 Aug 2017 11:02
URI: http://eprints.manipal.edu/id/eprint/149579

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