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

• Autors principals: Nagwa E. A. Gaboon (Autor), Asia Parveen (Autor), Khaled A. Ahmad (Autor), Taghreed Shuaib (Autor), Jumana Y. Al-Aama (Autor), Lereen Abdelwehab (Autor), Amina Arif (Autor), Naveed Wasif (Autor)
• Format: Llibre
• Publicat: Frontiers Media S.A., 2020-07-01T00:00:00Z.
• Matèries: article
• Accés en línia: Connect to this object online.

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...