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

• Главные авторы: Nagwa E. A. Gaboon (Автор), Asia Parveen (Автор), Khaled A. Ahmad (Автор), Taghreed Shuaib (Автор), Jumana Y. Al-Aama (Автор), Lereen Abdelwehab (Автор), Amina Arif (Автор), Naveed Wasif (Автор)
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• Опубликовано: Frontiers Media S.A., 2020-07-01T00:00:00Z.
• Предметы: article
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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...