Case Report: Novel compound heterozygous variants in CHRNA1 gene leading to lethal multiple pterygium syndrome: A case report

Background: Lethal multiple pterygium syndrome (LMPS) is a rare autosomal recessive inherited disorder typically characterized by intrauterine growth retardation, multiple pterygia, and flexion contractures. Case presentation: We herein report a Chinese case with a history of three adverse pregnanci...

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Detalles Bibliográficos
Autores principales: Zhuang, Jianlong, Wang, Junyu, Luo, Qi, Zeng, Shuhong, Chen, Yu’e, Jiang, Yuying, Chen, Xinying, Wang, Yuanbai, Xie, Yingjun, Wang, Gaoxiong, Chen, Chunnuan
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2022
Materias:
Genetics
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9459375/
https://www.ncbi.nlm.nih.gov/pubmed/36092864
http://dx.doi.org/10.3389/fgene.2022.964098

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9459375/
https://www.ncbi.nlm.nih.gov/pubmed/36092864
http://dx.doi.org/10.3389/fgene.2022.964098

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