A Novel Homozygous Nonsense Variant in the DYM Underlies Dyggve-Melchior-Clausen Syndrome in Large Consanguineous Family

(1) Background: Dyggve-Melchior-Clausen Syndrome is a skeletal dysplasia caused by a defect in the DYM gene (OMIM number 607461). Pathogenic variants in the gene have been reported to cause Dyggve-Melchior-Clausen (DMC; OMIM 223800) dysplasia and Smith-McCort (SMC; OMIM 607326) dysplasia. (2) Method...

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Detalles Bibliográficos
Autores principales: Bakar, Abu, Shams, Sulaiman, Bibi, Nousheen, Ullah, Asmat, Ahmad, Wasim, Jelani, Musharraf, Muthaffar, Osama Yousef, Abdulkareem, Angham Abdulrhman, Abujamel, Turki S., Haque, Absarul, Naseer, Muhammad Imran, Khan, Bushra
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2023
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9956627/
https://www.ncbi.nlm.nih.gov/pubmed/36833437
http://dx.doi.org/10.3390/genes14020510

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9956627/
https://www.ncbi.nlm.nih.gov/pubmed/36833437
http://dx.doi.org/10.3390/genes14020510

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