TMEM263: a novel candidate gene implicated in human autosomal recessive severe lethal skeletal dysplasia

INTRODUCTION: Skeletal dysplasia is a common, clinically and genetically heterogeneous disorder in the human population. An increasing number of different genes are being identified causing this disorder. We used whole exome sequencing (WES) for detection of skeletal dysplasia causing mutation in a...

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Detalles Bibliográficos
Autores principales: Mohajeri, Mahsa Sadat Asl, Eslahi, Atieh, Khazaii, Zeinab, Moradi, Mohammad Reza, Pazhoomand, Reza, Farrokhi, Shima, Feizabadi, Masoumeh Heidari, Alizadeh, Farzaneh, Mojarrad, Majid
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2021
Materias:
Primary Research
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8268343/
https://www.ncbi.nlm.nih.gov/pubmed/34238371
http://dx.doi.org/10.1186/s40246-021-00343-2

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8268343/
https://www.ncbi.nlm.nih.gov/pubmed/34238371
http://dx.doi.org/10.1186/s40246-021-00343-2

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