Lysosomal storage diseases - Cancer Therapy Advisor
PDF) Genomic duplication in Dyggve Melchior Clausen syndrome, a novel mutation mechanism in an autosomal recessive disorder
Frontiers Physical, language, neurodevelopment and phenotype-genotype correlation of Chinese patients with Mowat-Wilson syndrome
One of the characteristics of kids with Dyggve syndrome is having barrel shaped chest, which in simple terms means over sized chest. . .
Two distinct genetic diseases in one family. Left: Upper body
Frontiers A Novel Homozygous Frameshift Variant in DYM Causing Dyggve-Melchior-Clausen Syndrome in Pakistani Patients
Genetics, PDF, Epilepsy
Dyggve-Melchior-Clausen Syndrome - DoveMed
Characteristics of Down syndrome (with downloadable graphic)
Dyggve–Melchior–Clausen syndrome and Smith–McCort dysplasia: Clinical and molecular findings in three families supporting genetic heterogeneity in Smith–McCort dysplasia - Neumann - 2006 - American Journal of Medical Genetics Part A - Wiley