New autosomal recessive syndrome of mental retardation, epilepsy, short stature, and skeletal dysplasia.
Gurrieri
F
F
Istituto di Genetica Medica, Facoltà di Medicina A. Gemelli, Università Cattolica, Rome, Italy.
Sammito
V
V
Bellussi
A
A
Neri
G
G
D000015:Abnormalities, Multiple / Q000235:genetics*; D000293:Adolescent; D000328:Adult; D001848:Bone Diseases, Developmental / Q000000981:diagnostic imaging / Q000235:genetics*; D004392:Dwarfism / Q000235:genetics*; D004827:Epilepsy / Q000235:genetics*; D005260:Female; D005808:Genes, Recessive; D006801:Humans; D008607:Intellectual Disability / Q000235:genetics*; D008297:Male; D011859:Radiography; D013577:Syndrome