Mesh : Angelman Syndrome / genetics physiopathology Ataxia / genetics physiopathology Codon, Nonsense / genetics Epilepsy / genetics physiopathology Female Genetic Diseases, X-Linked / genetics physiopathology Heterozygote Humans Intellectual Disability / genetics physiopathology Learning Disabilities / genetics physiopathology Male Microcephaly / genetics physiopathology Mutation Ocular Motility Disorders / genetics physiopathology Pedigree Sodium-Hydrogen Exchangers / genetics
来 源:
DOI:10.1007/s00439-016-1675-5
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