Disease: Abidi X-linked mental retardation syndrome
- A new X linked mental retardation (XLMR) syndrome with short stature, small testes, muscle wasting, and tremor localises to Xq24-q25
- A novel mutation in the PHF8 gene is associated with X-linked mental retardation with cleft lip/cleft palate
- Alpha-thalassemia intellectual disability: variable phenotypic expression among males with a recurrent nonsense mutation - c.109C>T (p.R37X)
- Altered neurodevelopment associated with mutations of RSK2: a morphometric MRI study of Coffin-Lowry syndrome
- Analysis of X-inactivation status in a Rett syndrome natural history study cohort
- ARHGEF9 disruption in a female patient is associated with X linked mental retardation and sensory hyperarousal
- CASK mutations are frequent in males and cause X-linked nystagmus and variable XLMR phenotypes
- Cognitive function in Coffin-Lowry syndrome
- Disruptions of the novel KIAA1202 gene are associated with X-linked mental retardation
- Evaluation of a mutation screening strategy for sporadic cases of ATR-X syndrome
- Golabi-Ito-Hall syndrome results from a missense mutation in the WW domain of the PQBP1 gene
- HUWE1 mutations in Juberg-Marsidi and Brooks syndromes: the results of an X-chromosome exome sequencing study
- Mutation in the 5' alternatively spliced region of the XNP/ATR-X gene causes Chudley-Lowry syndrome
- Mutations in the X-linked RSK2 gene (RPS6KA3) in patients with Coffin-Lowry syndrome
- Novel truncating mutations in the polyglutamine tract binding protein 1 gene (PQBP1) cause Renpenning syndrome and X-linked mental retardation in another family with microcephaly
- Renpenning syndrome comes into focus
- X-linked mental retardation with variable stature, head circumference, and testicular volume linked to Xq12-q21
- XLMR syndrome characterized by multiple respiratory infections, hypertelorism, severe CNS deterioration and early death localizes to distal Xq28