Disease: Mental retardation short stature deafness genital
- 'Little leopard' syndrome. Description of 3 cases and review of 24
- Definition of 5q11.2 microdeletion syndrome reveals overlap with CHARGE syndrome and 22q11 deletion syndrome phenotypes
- Effect of the size of the deletion and clinical manifestation in Wolf-Hirschhorn syndrome: analysis of 13 patients with a de novo deletion
- Juberg-Marsidi syndrome: report of an additional case
- Molecular and clinical analysis of RAF1 in Noonan syndrome and related disorders: dephosphorylation of serine 259 as the essential mechanism for mutant activation
- Phenotypic spectrum of patients with mutations in CHD7: clinical implications of endocrinological findings
- Special female hermaphroditism associated with multiple disorders
- The spectrum of clinical features in CHARGE syndrome
- X ring chromosome