Nagwa E A Gaboon Asia Parveen Khaled A Ahmad Taghreed Shuaib Jumana Y Al-Aama Lereen Abdelwehab Amina Arif Naveed Wasif
10.3389/fped.2020.00383
Front Pediatr
2020 Jul 16;8:383.
dym dyggve-melchior-clausen syndrome sanger sequencing smith-mccort dysplasia consanguineous
CC BY
https://pubmed.ncbi.nlm.nih.gov/32766185/
Case Reports
PMC7378890
32766185
A Novel Homozygous Frameshift Variant in DYM Causing Dyggve-Melchior-Clausen Syndrome in Pakistani Patients
2020