8q12.1q12.3 de novo microdeletion involving the CHD7 gene in a patient without the major features of CHARGE syndrome: Case report and critical review of the literature

Gene

Volumn 513, Issue 1, 2013, Pages 209-213

  Palumbo, Orazio ^a   Palumbo, Pietro ^a,b   Stallone, Raffaella ^a   Palladino, Teresa ^a   Zelante, Leopoldo ^a   Carella, Massimo ^a  

^a CASA SOLLIEVO DELLA SOFFERENZA HOSPITAL   (Italy)

^b UNIVERSITY OF BARI   (Italy)

Author keywords

8q12.1q12.3 deletion; CHARGE syndrome; CHD7; SNP array

Indexed keywords

CHROMODOMAIN HELICASE DNA BINDING PROTEIN 7; DNA BINDING PROTEIN; UNCLASSIFIED DRUG;

ARTICLE; BIRTH WEIGHT; CASE REPORT; CESAREAN SECTION; CHILD; CHROMOSOME 8Q; CHROMOSOME 8Q12.1Q12.3 DE NOVO MICRODELETION; CHROMOSOME DELETION; COMPUTER ASSISTED TOMOGRAPHY; ELECTROCARDIOGRAM; FEMALE; GASTROESOPHAGEAL REFLUX; GENE DELETION; GESTATIONAL AGE; HEAD CIRCUMFERENCE; HUMAN; LARYNGOMALACIA; MALE; NUCLEAR MAGNETIC RESONANCE IMAGING; PHENOTYPE; PRIORITY JOURNAL; SCHOOL CHILD; SINGLE NUCLEOTIDE POLYMORPHISM; SYNDROME CHARGE; TRACHEOSTOMY;

BASE SEQUENCE; CHARGE SYNDROME; CHILD; CHROMOSOMES, HUMAN, PAIR 8; DNA HELICASES; DNA-BINDING PROTEINS; FEMALE; HUMANS; POLYMORPHISM, SINGLE NUCLEOTIDE; SEQUENCE DELETION; SEVERITY OF ILLNESS INDEX;

EID: 84872371153     PISSN: 03781119     EISSN: 18790038     Source Type: Journal    
DOI: 10.1016/j.gene.2012.09.132     Document Type: Article

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