Disease: Marfanoid mental retardation syndrome autosomal
- A newly recognized syndrome of Marfanoid habitus; long face; hypotelorism; long, thin nose; long, thin hands and feet; and a specific pattern of language and learning disabilities
- A small de novo 16q24.1 duplication in a woman with severe clinical features
- Deciphering the Pathogenic Nature of Two de novo Sequence Variations in a Patient with Shprintzen-Goldberg Syndrome
- Microcephaly, focal segmental glomerulonephritis and marfanoid habitus in two sibs
- Multiple coagulation defects and the Cohen syndrome
- Non-bullous ichthyosiform erythroderma associated with retinitis pigmentosa
- Shprintzen-Goldberg Syndrome: A Rare Disorder
- Two cases of 5q deletions in patients with familial adenomatous polyposis: possible link with Caroli's disease