Genotypes and phenotypes of 162 families with a Glomulin mutation

Molecular Syndromology

Volumn 4, Issue 4, 2013, Pages 157-164

  Brouillard, P ^a   Boon, L M ^a,b   Revencu, N ^a,b   Berg, J ^c   Dompmartin, A ^d   Dubois, J ⁱ   Garzon, M ^j   Holden, S ^l   Kangesu, L ^m   Labreze C ^e   Lynch, S A ^p   McKeown, C ^o   Meskauskas, R ^q   Quere, I ^f   Syed, S ⁿ   Vabres, P ^g   Wassef, M ^h   Mulliken, J B ^k   Vikkula, M ^a,b  

^a DE DUVE INSTITUTE   (Belgium)

^b CLINIQUES UNIVERSITAIRES SAINT LUC   (Belgium)

^c UNIVERSITY OF DUNDEE   (United Kingdom)

^d CAEN UNIVERSITY HOSPITAL   (France)

^e HÔPITAL PELLEGRIN   (France)

^f Hôpital St Elois   (France)

^g DIJON UNIVERSITY HOSPITAL   (France)

^h HÔPITAL LARIBOISIÈRE   (France)

ⁱ UNIVERSITY OF MONTREAL   (Canada)

^j Harvard Medical School ^*  (United States)

^k BOSTON CHILDREN S HOSPITAL   (United States)

^l GUY'S AND ST THOMAS' NHS FOUNDATION TRUST   (United Kingdom)

^m BROOMFIELD HOSPITAL   (United Kingdom)

ⁿ GREAT ORMOND STREET HOSPITAL   (United Kingdom)

^o BIRMINGHAM WOMEN S HOSPITAL   (United Kingdom)

^p National Centre for Medical Genetics   (Ireland)

^q VILNIUS UNIVERSITY   (Lithuania)

more..

Author keywords

Anomaly; Gene; Glomulin; Glomuvenous malformation; Vascular

Indexed keywords

ANGIOPOIETIN RECEPTOR;

ADOLESCENT; ADULT; AGED; ARTERIOVENOUS MALFORMATION; ARTICLE; BLUE RUBBER BLEB NEVUS; CHILD; FEMALE; FRAMESHIFT MUTATION; GENE; GENE DELETION; GENE FREQUENCY; GENE MUTATION; GENETIC SCREENING; GENOTYPE; GENOTYPE PHENOTYPE CORRELATION; GLOMULIN; GLOMUVENOUS MALFORMATION; HAPLOTYPE; HETEROZYGOTE; HUMAN; INFANT; MAJOR CLINICAL STUDY; MALE; MUTATION RATE; MUTATIONAL ANALYSIS; NONSENSE MUTATION; PENETRANCE; PHENOTYPE; PRESCHOOL CHILD; PRIORITY JOURNAL; SCHOOL CHILD; SPLICING DEFECT; AUTOSOMAL DOMINANT INHERITANCE; CONGENITAL BLOOD VESSEL MALFORMATION; CONTROLLED STUDY; GENETIC COUNSELING; GENETIC VARIABILITY; GLOMULIN GENE; HIGH RESOLUTION MELTING ANALYSIS; NONSENSE MEDIATED MRNA DECAY; OPEN READING FRAME; STOP CODON;

GLOMUS;

EID: 84877257864     PISSN: 16618769     EISSN: 16618777     Source Type: Journal    
DOI: 10.1159/000348675     Document Type: Article

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