tailieunhanh - P.E95K mutation in Indian hedgehog causing brachydactyly type A1 impairs IHH/ Gli1 downstream transcriptional regulation

Brachydactyly type A1 (BDA1, OMIM 112500) is a rare inherited malformation characterized primarily by shortness or absence of middle bones of fingers and toes. It is the first recorded disorder of the autosomal dominant Mendelian trait. |

TỪ KHÓA LIÊN QUAN