Core binding factor beta (CBFB) haploinsufficiency due to an interstitial deletion at 16q21q22 resulting in delayed cranial ossification, cleft palate, congenital heart anomalies, and feeding difficulties but favorable outcome

American Journal of Medical Genetics, Part A

Volumn 140, Issue 21, 2006, Pages 2349-2354

  Khan, Aneal ^a   Hyde, R Katherine ^b   Dutra, Amalia ^b   Mohide, Patrick ^c   Liu, Paul ^b  

^a MCMASTER UNIVERSITY   (Canada)

^b NATIONAL HUMAN GENOME RESEARCH INSTITUTE   (United States)

^c MCMASTER UNIVERSITY MEDICAL CENTRE   (Canada)

Author keywords

16q21; CBFB; Core binding factor; Cranial suture diastasis; Deletion

Indexed keywords

CORE BINDING FACTOR BETA; GENE PRODUCT; TRANSCRIPTION FACTOR RUNX2; UNCLASSIFIED DRUG;

ARTICLE; BONE DEVELOPMENT; CASE REPORT; CBFB GENE; CFBA1 GENE; CHILD; CHROMOSOME 16Q; CHROMOSOME DELETION; CLEFT PALATE; CLEIDOCRANIAL DYSPLASIA; CLINICAL FEATURE; CONGENITAL HEART MALFORMATION; DISEASE COURSE; EMBRYO DEVELOPMENT; FEEDING DISORDER; GENE; GENE DELETION; GENE MUTATION; HOMOZYGOSITY; HUMAN; MALE; MORPHOGENESIS; PERINATAL PERIOD; PRENATAL PERIOD; PRIORITY JOURNAL; RUNX2 GENE; SKULL DEFECT;

ABNORMALITIES, MULTIPLE; ANIMALS; CHROMOSOME DELETION; CHROMOSOMES, HUMAN, PAIR 16; CLEFT PALATE; CORE BINDING FACTOR BETA SUBUNIT; FEEDING AND EATING DISORDERS OF CHILDHOOD; FEMALE; HEART DEFECTS, CONGENITAL; HUMANS; IN SITU HYBRIDIZATION, FLUORESCENCE; INFANT; MALE; MICE; OSSIFICATION, HETEROTOPIC; PREGNANCY; PROGNOSIS; SKULL;

EID: 33750575433     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.31479     Document Type: Article

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