TY  - GEN
AU  - Pretegiani,Elena
AU  - Mari,Francesca
AU  - Renieri,Alessandra
AU  - Penco,Silvana
AU  - Dotti,Maria Teresa
TI  - Nicolaides-Baraitser syndrome: defining a phenotype
SN  - 1432-1459
PY  - 2017///0411
KW  - Adult
KW  - Facies
KW  - Female
KW  - Foot Deformities, Congenital
KW  - complications
KW  - Humans
KW  - Hyperinsulinism
KW  - etiology
KW  - Hypotrichosis
KW  - Intellectual Disability
KW  - KRIT1 Protein
KW  - Microtubule-Associated Proteins
KW  - genetics
KW  - Mutation
KW  - Phenotype
KW  - Proto-Oncogene Proteins
KW  - Transcription Factors
N1  - Publication Type: Case Reports; Letter
UR  - https://doi.org/10.1007/s00415-016-8194-0
ER  -