Deletion of 2 amino acids in IHH in a Japanese family with brachydactyly type A1

• Main Authors: Nozomu Ozaki (Author), Hiroko Okuda (Author), Hatasu Kobayashi (Author), Kouji H. Harada (Author), Sumiko Inoue (Author), Shohab Youssefian (Author), Akio Koizumi (Author)
• Format: Book
• Published: BMC, 2021-07-01T00:00:00Z.
• Subjects: article
• Online Access: Connect to this object online.

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 plays a key role in endochondral ossification. To date, heterozygous p...