Disease: Mental retardation hypotonia skin hyperpigmentation
- A novel heterozygous MAP2K1 mutation in a patient with Noonan syndrome with multiple lentigines
- Cerebro-oculo-nasal syndrome: another case and review of the literature
- Clinical and molecular studies in fragile X patients with a Prader-Willi-like phenotype
- Clinical and neurological findings of severe vitamin B12 deficiency in infancy and importance of early diagnosis and treatment
- Cohen syndrome with acanthosis nigricans and insulin resistance
- De Barsy syndrome--an autosomal recessive, progeroid syndrome
- Hypotonic infant with Pallister-Killian syndrome diagnosed by cytogenetic microarray, without pigmentary skin changes and malformations
- Microdeletion of 19p13.3 in a girl with Peutz-Jeghers syndrome, intellectual disability, hypotonia, and distinctive features
- Rare partial octosomy and hexasomy of 15q11-q13 associated with intellectual impairment and development delay: report of two cases and review of literature
- Two cases of Costello syndrome
- What syndrome is this? Killian-Teschler-Nicola syndrome