A Novel Homozygous Frameshift Variant in DYM Causing Dyggve-Melchior-Clausen Syndrome in Pakistani Patients

Background: Dyggve-Melchior-Clausen syndrome (DMC) is a skeletal dysplasia with associated defects of brain development and intelligence. The truncating pathogenic variants in DYM are the most frequent cause of DMC. Smith-McCort (SMC), another skeletal dysplasia, is also caused by non-synonymous DYM...

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Detalles Bibliográficos
Autores principales: Gaboon, Nagwa E. A., Parveen, Asia, Ahmad, Khaled A., Shuaib, Taghreed, Al-Aama, Jumana Y., Abdelwehab, Lereen, Arif, Amina, Wasif, Naveed
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2020
Materias:
Pediatrics
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7378890/
https://www.ncbi.nlm.nih.gov/pubmed/32766185
http://dx.doi.org/10.3389/fped.2020.00383

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7378890/
https://www.ncbi.nlm.nih.gov/pubmed/32766185
http://dx.doi.org/10.3389/fped.2020.00383

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