ZEB2 gene mutation and duplication of 22q11.23 in Mowat-Wilson syndrome

Journal of Child Neurology

Volumn 30, Issue 1, 2015, Pages 32-36

  Buraniqi, Ersida ^a   Moodley, Manikum ^b  

^a ISTANBUL UNIVERSITY   (Turkey)

^b LERNER RESEARCH INSTITUTE   (United States)

Author keywords

Duplication of 22q11.23; Mowat Wilson syndrome; ZEB2 gene

Indexed keywords

ABNORMAL LABORATORY RESULT; ARTICLE; CASE REPORT; CHILD; CHROMOSOME 22Q; CHROMOSOME DUPLICATION; CLINICAL FEATURE; COLOBOMA; COPY NUMBER VARIATION; CORPUS CALLOSUM AGENESIS; FACIES; FEMALE; FLUORESCENCE IN SITU HYBRIDIZATION; GENE MUTATION; HUMAN; IRIS COLOBOMA; LATERAL BRAIN VENTRICLE; LOW SET EAR; MENTAL RETARDATION MALFORMATION SYNDROME; MICROCEPHALY; MICROGNATHIA; MOWAT WILSON SYNDROME; NUCLEAR MAGNETIC RESONANCE IMAGING; OPTIC NERVE DISEASE; PRESCHOOL CHILD; PRIORITY JOURNAL; ZEB2 GENE; BRAIN; CHROMOSOME 22; COMPLICATION; GENETICS; HIRSCHSPRUNG DISEASE; INTELLECTUAL IMPAIRMENT; MUTATION; PATHOLOGY; TRISOMY;

HOMEODOMAIN PROTEIN; REPRESSOR PROTEIN; ZEB2 PROTEIN, HUMAN;

BRAIN; CHILD, PRESCHOOL; CHROMOSOMES, HUMAN, PAIR 22; FACIES; FEMALE; HIRSCHSPRUNG DISEASE; HOMEODOMAIN PROTEINS; HUMANS; INTELLECTUAL DISABILITY; MAGNETIC RESONANCE IMAGING; MICROCEPHALY; MUTATION; REPRESSOR PROTEINS; TRISOMY;

EID: 84927626933     PISSN: 08830738     EISSN: 17088283     Source Type: Journal    
DOI: 10.1177/0883073814535501     Document Type: Article

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