Variability in expression of a familial 2.79Mb microdeletion in chromosome14q22.1-22.2

American Journal of Medical Genetics, Part A

Volumn 158 A, Issue 6, 2012, Pages 1381-1387

  Lumaka, Aimé ^a,b   Van Hole, Christine ^a   Casteels, Ingele ^a   Ortibus, Els ^a   De Wolf, Veerle ^a   Vermeesch, Joris R ^a   Lukusa, Tshilobo ^a,b   Devriendt, Koen ^a  

^a UNIVERSITY HOSPITALS LEUVEN   (Belgium)

^b UNIVERSITY OF KINSHASA   (Congo)

Author keywords

Anophthalmia; Haploinsufficiency; Microphthalmia

Indexed keywords

ADULT; ARTICLE; BONE MORPHOGENIC PROTEIN 4 GENE; CASE REPORT; CHILD; CHROMOSOME DELETION; CHROMOSOME DELETION 14Q22.1; CHROMOSOME DELETION 14Q22.2; CONGENITAL MALFORMATION; DEVELOPMENTAL DISORDER; FAMILIAL DISEASE; FEMALE; GENE; GENE EXPRESSION; GENOTYPE PHENOTYPE CORRELATION; HETEROZYGOTE DETECTION; HUMAN; INFANT; MALE; MICROPHTHALMIA; MUTATIONAL ANALYSIS; NEWBORN; PEDIGREE; PHENOTYPIC VARIATION; PIERRE ROBIN SYNDROME; POLYDACTYLY; PRESCHOOL CHILD; PRIORITY JOURNAL;

ABNORMALITIES, MULTIPLE; ADULT; BONE MORPHOGENETIC PROTEIN 4; CHROMOSOME DELETION; CHROMOSOME MAPPING; CHROMOSOMES, HUMAN, PAIR 14; COMPARATIVE GENOMIC HYBRIDIZATION; FAMILY; FEMALE; GENE EXPRESSION; GENE ORDER; GENETIC ASSOCIATION STUDIES; HUMANS; INFANT; MALE; MUTATION; PEDIGREE; PHENOTYPE;

EID: 84861223447     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.35353     Document Type: Article

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