Partial deletion of ANKRD11 results in the KBG phenotype distinct from the 16q24.3 microdeletion syndrome

American Journal of Medical Genetics, Part A

Volumn 161, Issue 4, 2013, Pages 835-840

  Khalifa, Mohamed ^a   Stein, Jennifer ^a   Grau, Lance ^a   Nelson, Valery ^b   Meck, Jeanne ^b   Aradhya, Swaroop ^b   Duby, John ^a  

^a AKRON CHILDREN'S HOSPITAL   (United States)

^b GENEDX   (United States)

Author keywords

16q24.3; ANKRD11; ASD; Autism; KBG; Macrodontia; MCA MR; Microdeletion; Mosaicism

Indexed keywords

16Q24.3 MICRODELETION SYNDROME; AFRICAN AMERICAN; ANKRD11 GENE; ARTICLE; BRACHYDACTYLY; CASE REPORT; CHILD; CHROMOSOME 16Q; CHROMOSOME DELETION; GENE; GENE DELETION; GENETIC DISORDER; GENOMICS; HUMAN; KBG SYNDROME; MACRODONTIA; MALE; MICROARRAY ANALYSIS; MOSAICISM; PHENOTYPE; PRESCHOOL CHILD; PRIORITY JOURNAL; SHORT STATURE; TOOTH DISEASE;

ABNORMALITIES, MULTIPLE; BONE DISEASES, DEVELOPMENTAL; CHROMOSOME DELETION; CHROMOSOMES, HUMAN, PAIR 16; COMPARATIVE GENOMIC HYBRIDIZATION; DIAGNOSIS, DIFFERENTIAL; FACIES; FEMALE; GENE DELETION; HUMANS; IN SITU HYBRIDIZATION, FLUORESCENCE; INFANT; INTELLECTUAL DISABILITY; MALE; MOSAICISM; PHENOTYPE; REPRESSOR PROTEINS; SYNDROME; TOOTH ABNORMALITIES;

EID: 84875517701     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.35739     Document Type: Article

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