A region of homozygosity within 22q11.2 associated with congenital heart disease: recessive DiGeorge/velocardiofacial syndrome?

Saved in:
Bibliographic Details
Published inJournal of medical genetics Vol. 38; no. 8; pp. 533 - 536
Main Authors Henwood, Judy, Pickard, Chris, Leek, Jack P, Bennett, Christopher P, Crow, Yanick J, Thompson, John D R, Ahmed, Mushtaq, Watterson, Kevin G, Parsons, Jonathan M, Roberts, Emma, Lench, Nicholas J
Format Journal Article
LanguageEnglish
Published London BMJ Publishing Group Ltd 01.08.2001
BMJ
BMJ Publishing Group LTD
BMJ Group
Subjects
Abnormalities, Multiple - genetics
Abnormalities, Multiple - pathology
Biological and medical sciences
Chromosome Deletion
Chromosomes, Human, Pair 22 - genetics
Complex syndromes
Consanguinity
Craniofacial Abnormalities - pathology
DiGeorge Syndrome - genetics
Family Health
Fatal Outcome
Heart Defects, Congenital - genetics
Heterozygote
Homozygote
Humans
Infant
Infant, Newborn
Letters to the Editor
Medical genetics
Medical sciences
Microsatellite Repeats
Pedigree
Phenotype
Syndrome
Association
DiGeorge syndrome
Heart disease
Cardiovascular disease
Region
Velocardiofacial syndrome
Homozygosity
Congenital disease
Online AccessGet full text

Cover

More Information
Bibliography:href:jmedgenet-38-533.pdf
istex:2034CAB33D5A53CAEAC0C5D2EC85C5E25C81C68F
ark:/67375/NVC-8LLCT659-2
local:jmedgenet;38/8/533
PMID:11494964
ISSN:0022-2593
1468-6244
1468-6244
DOI:10.1136/jmg.38.8.533