A further contribution to the delineation of the 17q21.31 microdeletion syndrome: Central nervous involvement in two Italian patients

European Journal of Medical Genetics

Volumn 55, Issue 8-9, 2012, Pages 466-471

  Terrone, Gaetano ^a   D'Amico, Alessandra ^a   Imperati, Floriana ^a   Carella, Massimo ^b   Palumbo, Orazio ^b   Gentile, Mattia ^c   Canani, Roberto Berni ^a   Melis, Daniela ^a   Romano, Alfonso ^a   Parente, Iolanda ^a   Riccitelli, Marina ^a   Del Giudice, Ennio ^a  

^a UNIVERSITY OF NAPLES FEDERICO II   (Italy)

^b CASA SOLLIEVO DELLA SOFFERENZA HOSPITAL   (Italy)

^c DI VENERE HOSPITAL   (Italy)

Author keywords

17q21.31 microdeletion syndrome; Arnold Chiari type 1 malformation; Behavioral disorders; MAPT gene

Indexed keywords

ARNOLD CHIARI MALFORMATION; ARTICLE; BRAIN VENTRICLE; CASE REPORT; CENTRAL NERVOUS SYSTEM DISEASE; CHROMOSOME 17Q; CHROMOSOME DELETION; CLINICAL FEATURE; CORPUS CALLOSUM AGENESIS; ELECTROENCEPHALOGRAM; FEMALE; HEADACHE; HUMAN; INFANT; MEDULLA OBLONGATA; MENTAL DEFICIENCY; MUSCLE WEAKNESS; NECK PAIN; NERVE CELL DIFFERENTIATION; NEUROIMAGING; NEUROPSYCHOLOGY; PHYSICAL EXAMINATION; SEIZURE; SINGLE NUCLEOTIDE POLYMORPHISM;

ABNORMALITIES, MULTIPLE; ADOLESCENT; BRAIN; CHILD; CHROMOSOME DELETION; CHROMOSOMES, HUMAN, PAIR 17; FEMALE; HUMANS; INTELLECTUAL DISABILITY; MAGNETIC RESONANCE IMAGING; NEUROIMAGING; OLIGONUCLEOTIDE ARRAY SEQUENCE ANALYSIS; POLYMORPHISM, SINGLE NUCLEOTIDE;

EID: 84864149473     PISSN: 17697212     EISSN: 18780849     Source Type: Journal    
DOI: 10.1016/j.ejmg.2012.04.010     Document Type: Article

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