Disease: Cataracts- ataxia- short stature- and mental retardation
- <em>CTDP1</em>-Related Congenital Cataracts, Facial Dysmorphism, and Neuropathy
- Cataracts, ataxia, short stature, and mental retardation in a Chinese family mapped to Xpter-q13.1
- CTDP1-Related Congenital Cataracts, Facial Dysmorphism, and Neuropathy
- Eccrine sweat gland anatomy in cockayne syndrome: a possible diagnostic aid
- Genetic disorders associated with postnatal microcephaly
- Marinesco-Sjögren syndrome associated with acute myeloblastic leukemia
- Marinesco-Sjögren syndrome in a male with mild dysmorphism
- Marinesco-Sjögren syndrome--report of two patients in a family with muscle CT study
- Mevalonate kinase deficiency: enlarging the clinical and biochemical spectrum
- Nonprogressive cerebellar disorder with mental retardation and autosomal recessive inheritance in Hutterites