Prenatal diagnosis of recurrent moderate skeletal dysplasias in lamin B receptors

The lamin B receptor (LBR) gene is located in chromosome 1q42.12 and encodes the lamin B receptor, an intracellular protein that binds to lamin B. LBR mutations are associated with a broad phenotypic spectrum ranging from non-lethal to lethal skeletal dysplasias. The typical phenotypes include the P...

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Detalles Bibliográficos
Autores principales: Shen, Xueping, Li, Zhi, Pan, Xuekui, Yao, Juan, Shen, Guosong, Zhang, Su, Dong, Minyue, Fan, Lihong
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/PMC9883016/
https://www.ncbi.nlm.nih.gov/pubmed/36712868
http://dx.doi.org/10.3389/fgene.2022.1020475

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9883016/
https://www.ncbi.nlm.nih.gov/pubmed/36712868
http://dx.doi.org/10.3389/fgene.2022.1020475

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