Case Report: Early diagnosis of lethal multiple pterygium syndrome with micrognathia: Two novel mutations in the CHRND gene

Lethal multiple pterygium syndrome (LMPS) is a rare disease with genetic and phenotypic heterogeneity and is inherited in an autosomal recessive (AR) pattern. Here, we have presented clinically significant results describing two novel mutations of CHRND gene: NM_000751.2: c.1006C>T p.(Arg336Ter)...

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Detalles Bibliográficos
Autores principales: Chen, Caiyuan, Han, Jin, Xue, Jiaxin, Li, Ru, Chen, Guilan, Yang, Xin, Tang, Jiajie, Li, Fucheng, Li, Dongzhi
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2023
Materias:
Genetics
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9886669/
https://www.ncbi.nlm.nih.gov/pubmed/36733345
http://dx.doi.org/10.3389/fgene.2023.1005624

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9886669/
https://www.ncbi.nlm.nih.gov/pubmed/36733345
http://dx.doi.org/10.3389/fgene.2023.1005624

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