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PDF) Genomic duplication in Dyggve Melchior Clausen syndrome, a novel mutation mechanism in an autosomal recessive disorder
One of the characteristics of kids with Dyggve syndrome is having barrel shaped chest, which in simple terms means over sized chest. . .
PDF) Dyggve-Melchior-Clausen Syndrome
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
PDF) Dyggve-Melchior-Clausen syndrome without mental retardation (Smith-McCort dysplasia)
Genes, Free Full-Text
Pedigree of the DMC family in which homozygous insertion variant
Children who harbor more than one P/LP variant. (A) Girl who inherited
PDF) Dyggve-Melchior-Clausen syndrome without mental retardation (Smith-McCort dysplasia)
Lysosomal storage diseases - Cancer Therapy Advisor
One of the characteristics of kids with Dyggve syndrome is having barrel shaped chest, which in simple terms means over sized chest. . .
Mutations in HID1 Cause Syndromic Infantile Encephalopathy and Hypopituitarism - Schänzer - 2021 - Annals of Neurology - Wiley Online Library
Morquio Syndrome (Mucopolysaccharidosis Type IV) Clinical Presentation: History, Physical, Causes