Sub-Exome Target Sequencing in a Family With Syndactyly Type IV Due to a Novel Partial Duplication of the LMBR1 Gene: First Case Report in Fujian Province of China

Syndactyly is one of the most frequent hereditary limb malformations with clinical and genetical complexity. Autosomal dominant syndactyly type IV (SD4) is a rare form of syndactyly, caused by heterozygous mutations in a sonic hedgehog (SHH) regulatory element (ZRS) which resides in intron 5 of the...

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Detalles Bibliográficos
Autores principales: Shi, Lijing, Huang, Hui, Jiang, Qiuxia, Huang, Rongsen, Fu, Wanyu, Mao, Liangwei, Wei, Xiaoming, Cui, Huanhuan, Lin, Keke, Cai, Licheng, Yang, You, Wang, Yuanbai, Wu, Jing
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2020
Materias:
Genetics
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7058806/
https://www.ncbi.nlm.nih.gov/pubmed/32184803
http://dx.doi.org/10.3389/fgene.2020.00130

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