Article

A novel variant of IHH in a Chinese family with brachydactyly type 1

2020-02-25

Abstract excerpt

<title>Abstract</title> <p>Brachydactyly type A1(BDA-1) is an autosomal dominant disorder which is caused by heterozygous pathogenic variants in a specific region of the N-terminal active fragment of Indian Hedgehog ( IHH ). The disorder is mainly characterized by shortening or missing of the middle phalanges. The following study revealed a novel heterozygous missense variant c.299A>G (p.D100G) at the mutational...

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Identifiers and source

Literature Corpus work: 375e467e-e296-5b60-86ec-2ed0d5f95ae5
DOI: 10.21203/rs.2.11651/v3

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