Disease: Shoulder girdle defect mental retardation familial
- Autosomal recessive otofaciocervical syndrome type 2 with novel homozygous small insertion in PAX1 gene
- Baraitser-Winter Cerebrofrontofacial Syndrome
- Baraitser-Winter cerebrofrontofacial syndrome: delineation of the spectrum in 42 cases
- Compound heterozygous POMT1 mutations in a Chinese family with autosomal recessive muscular dystrophy-dystroglycanopathy C1
- Prominent scapulae mimicking an inherited myopathy expands the phenotype of CHD7-related disease