An intragenic deletion of the NFIA gene in a patient with a hypoplastic corpus callosum, craniofacial abnormalities and urinary tract defects

European Journal of Medical Genetics

Volumn 57, Issue 2-3, 2014, Pages 65-70

  Rao, Anupam ^a,b   O'Donnell, Sheridan ^b   Bain, Nicole ^c   Meldrum, Cliff ^c   Shorter, Damon ^d   Goel, Himanshu ^a,b  

^a UNIVERSITY OF NEWCASTLE   (Australia)

^b Hunter Health   (Australia)

^c JOHN HUNTER HOSPITAL   (Australia)

^d NONE   (Australia)

Author keywords

Chromosome 1p31.3; Corpus callosum agenesis; Craniofacial defects; Microdeletion; NFIA gene

Indexed keywords

ARTICLE; BIRTH WEIGHT; CASE REPORT; CHILD; CHROMOSOME 1P; CHROMOSOME 1P31.3; CHROMOSOME ABERRATION; CHROMOSOME DELETION; COMMUNICATION SKILL; COMPARATIVE GENOMIC HYBRIDIZATION; CORPUS CALLOSUM AGENESIS; CRANIOFACIAL MALFORMATION; DSM-IV-TR; EXON; EYE HAND COORDINATION; FAILURE TO THRIVE; FEMALE; FLUORESCENCE IN SITU HYBRIDIZATION; GESTATIONAL AGE; GILLIAM AUTISM RATING SCALE; HEAD CIRCUMFERENCE; HEMOGLOBINURIA; HUMAN; HYPOPLASIA; JAUNDICE; KARYOTYPING; LASER LITHOTRIPSY; MOTOR PERFORMANCE; MUSCLE HYPOTONIA; NAMED INVENTORIES, QUESTIONNAIRES AND RATING SCALES; NEPHROLITHIASIS; NEUROIMAGING; NUCLEAR MAGNETIC RESONANCE IMAGING; PALPEBRAL FISSURE; PERVASIVE DEVELOPMENTAL DISORDER NOT OTHERWISE SPECIFIED; SCHOOL CHILD; SOCIAL COMMUNICATION QUESTIONNAIRE; SOCIAL INTERACTION; SYNOSTOSIS; URETEROSCOPY; URINARY TRACT MALFORMATION; ABNORMALITIES, MULTIPLE; CHROMOSOME 1; CHROMOSOME MAP; CORPUS CALLOSUM; CRANIOFACIAL ABNORMALITIES; FACIES; GENETICS; PATHOLOGY; PHENOTYPE; URINARY TRACT;

NFIA PROTEIN, HUMAN; NUCLEAR FACTOR I;

ABNORMALITIES, MULTIPLE; CHILD; CHROMOSOME DELETION; CHROMOSOME MAPPING; CHROMOSOMES, HUMAN, PAIR 1; COMPARATIVE GENOMIC HYBRIDIZATION; CORPUS CALLOSUM; CRANIOFACIAL ABNORMALITIES; FACIES; FEMALE; HUMANS; MAGNETIC RESONANCE IMAGING; NFI TRANSCRIPTION FACTORS; PHENOTYPE; URINARY TRACT;

EID: 84897117097     PISSN: 17697212     EISSN: 18780849     Source Type: Journal    
DOI: 10.1016/j.ejmg.2013.12.011     Document Type: Article

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