Nicolaides-Baraitser syndrome: defining a phenotype.
Laboratory of Sensorimotor Research, IRP, National Eye Institute, National Institutes of Health, 49 Convent Dr., Room 2A50, Bethesda, MD, 20892-4435, USA. elena.pretegiani@nih.gov.|Neurodegenerative Disease Unit, Department of Medical, Surgical, and Neurological Sciences, University of Siena, Siena, Italy. elena.pretegiani@nih.gov.
Elena
E
Pretegiani
Medical Genetics, University of Siena, Siena, Italy.|Genetica Medica, Azienda Ospedaliera Universitaria Senese, Siena, Italy.
Francesca
F
Mari
Medical Genetics, University of Siena, Siena, Italy.|Genetica Medica, Azienda Ospedaliera Universitaria Senese, Siena, Italy.
Alessandra
A
Renieri
Medical Genetics, A.O. Niguarda Ca' Granda, Milan, Italy.
Silvana
S
Penco
Neurodegenerative Disease Unit, Department of Medical, Surgical, and Neurological Sciences, University of Siena, Siena, Italy.
Maria Teresa
MT
Dotti
D000328:Adult; D019066:Facies; D005260:Female; D005532:Foot Deformities, Congenital / Q000150:complications / Q000175:diagnosis / Q000235:genetics; D006801:Humans; D006946:Hyperinsulinism / Q000209:etiology; D007039:Hypotrichosis / Q000150:complications / Q000175:diagnosis / Q000235:genetics; D008607:Intellectual Disability / Q000150:complications / Q000175:diagnosis / Q000235:genetics; D000075927:KRIT1 Protein; D008869:Microtubule-Associated Proteins / Q000235:genetics; D009154:Mutation / Q000235:genetics; D010641:Phenotype; D011518:Proto-Oncogene Proteins / Q000235:genetics; D014157:Transcription Factors / Q000235:genetics
D000075927:KRIT1 Protein; C107928:KRIT1 protein, human; D008869:Microtubule-Associated Proteins; D011518:Proto-Oncogene Proteins; C084011:SMARCA2 protein, human; D014157:Transcription Factors