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

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

• References

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