Disease: Cataract hypertrichosis mental retardation
- Cataract, hypertrichosis, and mental retardation (CAHMR): a new autosomal recessive syndrome
- Marinesco-Sjögren syndrome in a male with mild dysmorphism
- Novel manifestations of Warburg micro syndrome type 1 caused by a new splicing variant of RAB3GAP1: a case report
- Three mildly retarded siblings with congenital cataracts, sensorineural deafness, hypogonadism, hypertrichosis and short stature: a new syndrome?
- Unilateral skin lesions associated with multiple neoplasms