Disease: X-linked mental retardation type Raynaud
- A novel X-linked recessive mental retardation syndrome comprising macrocephaly and ciliary dysfunction is allelic to oral-facial-digital type I syndrome
- Clinical and neurocognitive characterization of a family with a novel MED12 gene frameshift mutation
- Mutations of the UPF3B gene, which encodes a protein widely expressed in neurons, are associated with nonspecific mental retardation with or without autism
- Novel CLCN4 variant associated with syndromic X-linked intellectual disability in a Chinese girl: a case report
- Pathogenic variants in E3 ubiquitin ligase RLIM/RNF12 lead to a syndromic X-linked intellectual disability and behavior disorder