More clinical overlap between 22q11.2 deletion syndrome and charge syndrome than often anticipated

Molecular Syndromology

Volumn 4, Issue 5, 2013, Pages 235-245

  Corsten Janssen, N ^a   Saitta, S C ^c,d   Hoefsloot, L H ^b   McDonald Mcginn, D M ^c   Driscoll, D A ^c,d   Derks, R ^b   Dickinson, K A ^c   Kerstjens Frederikse, W S ^a   Emanuel, B S ^c,d   Zackai, E H ^c,d   Van Ravenswaaij Arts, C M A ^a  

^a UNIVERSITY MEDICAL CENTER GRONINGEN   (Netherlands)

^b RADBOUD UNIVERSITY MEDICAL CENTER   (Netherlands)

^c CHILDREN S HOSPITAL OF PHILADELPHIA   (United States)

^d UNIVERSITY OF PENNSYLVANIA   (United States)

Author keywords

22q11.2 deletion syndrome; CHARGE syndrome; CHD7; TBX1

Indexed keywords

ARTICLE; CHROMOSOME DELETION 22Q11; COHORT ANALYSIS; COLOBOMA; COMPUTER ASSISTED TOMOGRAPHY; CONGENITAL HEART MALFORMATION; EAR MALFORMATION; FEMALE; GASTROSTOMY; GENETIC ANALYSIS; GENETIC SCREENING; HAPLOINSUFFICIENCY; HEARING IMPAIRMENT; HEART VENTRICLE SEPTUM DEFECT; HUMAN; IMMUNE DEFICIENCY; KIDNEY MALFORMATION; MAJOR CLINICAL STUDY; MIXED HEARING LOSS; NEWBORN; PATENT DUCTUS ARTERIOSUS; PHENOTYPE; PRIORITY JOURNAL; RESPIRATORY DISTRESS; SYNDROME CHARGE; TRACHEOSTOMY; CASE REPORT; CHILD; CHROMOSOME BREAKAGE; CONGENITAL MALFORMATION; DEVELOPMENTAL DISORDER; GENE MUTATION; GENETIC ASSOCIATION; HETEROZYGOTE; INFANT; MOTOR DYSFUNCTION; PHYSICAL EXAMINATION; PRESCHOOL CHILD;

CHD7 PROTEIN; PROTEIN; TRANSCRIPTION FACTOR; TRANSCRIPTION FACTOR TBX1; UNCLASSIFIED DRUG;

EID: 84880015665     PISSN: 16618769     EISSN: 16618777     Source Type: Journal    
DOI: 10.1159/000351127     Document Type: Article

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