Dual novel mutations in SLC26A2 in two siblings with multiple epiphyseal dysplasia 4 from a Chinese family: a case report

BACKGROUND: Multiple epiphyseal dysplasia (MED) is a heterogeneous genetic condition characterized by variable phenotypes, such as short stature (mild to moderate), joint deformities, abnormal gait, scoliosis, and brachydactyly. Recessive mutations in the SLC26A2 gene cause a phenotype of multiple e...

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Pubblicato in:BMC Med Genet
Autori principali: Zhou, Taifeng, Wang, Yongqian, Zhou, Hang, Liao, Zhiheng, Gao, Bo, Su, Deying, Zheng, Shuhui, Xu, Caixia, Su, Peiqiang
Natura: Artigo
Lingua:Inglês
Pubblicazione: BioMed Central 2018
Soggetti:
Case Report
Accesso online:https://ncbi.nlm.nih.gov/pmc/articles/PMC5934830/
https://ncbi.nlm.nih.gov/pubmed/29724173
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s12881-018-0596-7
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