Microcephaly, intellectual impairment, bilateral vesicoureteral reflux, distichiasis, and glomuvenous malformations associated with a 16q24.3 contiguous gene deletion and a Glomulin mutation

American Journal of Medical Genetics, Part A

Volumn 158 A, Issue 4, 2012, Pages 839-849

  Butler, Matthew G ^a,d   Dagenais, Susan L ^a   Garcia Perez, José L ^a,b   Brouillard, Pascal ^c   Vikkula, Miikka ^c   Strouse, Peter ^a   Innis, Jeffrey W ^a   Glover, Thomas W ^a  

^a UNIVERSITY OF MICHIGAN MEDICAL SCHOOL   (United States)

^b UNIVERSITY OF GRANADA   (Spain)

^c DE DUVE INSTITUTE   (Belgium)

^d EUNICE KENNEDY SHRIVER NATIONAL INSTITUTE OF CHILD HEALTH AND HUMAN DEVELOPMENT   (United States)

Author keywords

Distichiasis; FBXO31; FOXC2; GLMN; Glomuvenous malformation; MAP1LC3B; Vascular malformation; Venous malformation; ZCCHC14

Indexed keywords

ARTICLE; BLADDER SURGERY; C16ORF95 GENE; CASE REPORT; CHROMOSOME 16Q; CONGENITAL BLOOD VESSEL MALFORMATION; FAMILY HISTORY; FBXO31 GENE; FEMALE; FOXC2 GENE; FOXL1 GENE; GENE; GENE DELETION; GENE EXPRESSION; GENE MUTATION; GENE SEQUENCE; GLMN GENE; GLOMUVENOUS MALFORMATION; HUMAN; HUMAN CELL; INTELLECTUAL IMPAIRMENT; LEG VARICOSIS; LYMPHEDEMA DISTICHIASIS; MAP1LC3B GENE; MICROCEPHALY; PRIORITY JOURNAL; REGULATORY SEQUENCE; TIE2 GENE; VESICOURETERAL REFLUX; ZCCHC14 GENE;

ADAPTOR PROTEINS, SIGNAL TRANSDUCING; CHILD; CHROMOSOME MAPPING; CHROMOSOMES, HUMAN, PAIR 16; DNA COPY NUMBER VARIATIONS; EYELASHES; FEMALE; FORKHEAD TRANSCRIPTION FACTORS; GENE DELETION; GENOTYPE; GLOMUS TUMOR; HUMANS; INTELLECTUAL DISABILITY; LYMPHEDEMA; MAGNETIC RESONANCE IMAGING; MICROCEPHALY; PARAGANGLIOMA, EXTRA-ADRENAL; RECEPTOR, TIE-2; VESICO-URETERAL REFLUX;

MEIBOMIA;

EID: 84859006610     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.35229     Document Type: Article

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