Disease: Sketetal dysplasia coarse facies mental retardation
- A new syndrome of dwarfism, brachydactyly, nail dysplasia, and mental retardation in sibs
- A novel frameshift mutation and infrequent clinical findings in two cases with Dyggve-Melchior-Clausen syndrome
- A Novel Homozygous Frameshift Variant in <em>DYM</em> Causing Dyggve-Melchior-Clausen Syndrome in Pakistani Patients
- Clinical and radiological findings in Brazilian patients with mucolipidosis types II/III
- Clinical manifestations and genetic mutation analysis of patients with mucopolysaccharidosis type VII in China
- Dyggve-Melchior-Clausen syndrome: clinical, genetic, and radiological study of 15 Egyptian patients from nine unrelated families
- Germline gain-of-function mutations in AFF4 cause a developmental syndrome functionally linking the super elongation complex and cohesin
- Mannosidosis: two brothers with different degrees of disease severity
- Severe skeletal dysplasia caused by undiagnosed hypothyroidism
- The expanding phenotypes of cohesinopathies: one ring to rule them all!
- The rare reason of pain in hip girdle: Mucolipidosis type 3 gamma
- Therapies for the bone in mucopolysaccharidoses
- Thyroid hormone resistance syndrome due to mutations in the thyroid hormone receptor α gene (THRA)