A familial case of Syndactyly type IV due to a novel duplication of ~222.23 kb covering exons 2-17 of the LMBR1 gene: a case report
Lijing Shi, Hui Huang, Qiuxia Jiang, Rongsen Huang, Wanyu Fu, Liangwei Mao, Xiaoming Wei, Huanhuan Cui, Keke Lin, Licheng Cai, You Bing Yang, Yuanbai Wang, Jing Wu
The paper reports a familial case of Syndactyly type IV caused by a novel LMBR1 gene duplication, highlighting clinical variability and expanding the known phenotype.
bioRxiv · Sep 18, 2018 · PreprintGenetics