One of the characteristics of kids with Dyggve syndrome is having

Mutations in HID1 Cause Syndromic Infantile Encephalopathy and Hypopituitarism - Schänzer - 2021 - Annals of Neurology - Wiley Online Library

Frontiers Case Report: Precision genetic diagnosis in a case of Dyggve-Melchior-Clausen syndrome reveals paternal isodisomy and heterodisomy of chromosome 18 with imprinting clinical implications

One of the characteristics of kids with Dyggve syndrome is having barrel shaped chest, which in simple terms means over sized chest. . .

Frontiers A Novel Homozygous Frameshift Mutation in CCN6 Causing Progressive Pseudorheumatoid Dysplasia (PPRD) in a Consanguineous Yemeni Family

Dyggve-Melchior-Clausen Syndrome - DoveMed

Morquio Syndrome (Mucopolysaccharidosis Type IV) Treatment & Management: Approach Considerations, Medical Care, Surgical Care

Diagnostically relevant facial gestalt information from ordinary photos

Flowchart of the approach used in this study to investigate a group of

From Rare Diseases, Genetic Disorders To Orphan Drugs, PDF, Genetic Disorder

Frequency of the main orthopedic manifestations in the studied

Frontiers 16q24.3 Microduplication in a Patient With Developmental Delay, Intellectual Disability, Short Stature, and Nonspecific Dysmorphic Features: Case Report and Review of the Literature

PDF) Dyggve-Melchior-Clausen syndrome without mental retardation (Smith-McCort dysplasia)