A novel variant of IHH in a Chinese family with brachydactyly type 1
Abstract Background 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 phalange...
| 主要な著者: | , , , , , , , , , |
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| フォーマット: | 論文 |
| 言語: | English |
| 出版事項: |
BMC
2020-03-01
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| シリーズ: | BMC Medical Genetics |
| 主題: | |
| オンライン･アクセス: | http://link.springer.com/article/10.1186/s12881-020-01000-6 |