Deletion of 2 amino acids in IHH in a Japanese family with brachydactyly type A1
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DOI: 10.1186/s12920-021-01042-6
Abstract: Background Brachydactyly type A1 (BDA1) is an autosomal dominant disorder characterized by uniform shortening of the middle phalanges in all digits. It is associated with variants in the Indian Hedgehog ( IHH ) gene, which… read more here.
Keywords: japanese family; brachydactyly type; ihh; family ... See more keywords
Novel Mutation in PTHLH Related to Brachydactyly Type E2 Initially Confused with Unclassical Pseudopseudohypoparathyroidism
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DOI: 10.3803/enm.2018.33.2.252
Abstract: Background Autosomal-dominant brachydactyly type E is a congenital abnormality characterized by small hands and feet, which is a consequence of shortened metacarpals and metatarsals. We recently encountered a young gentleman exhibiting shortening of 4th and… read more here.
Keywords: pthlh; novel mutation; type; pseudopseudohypoparathyroidism ... See more keywords