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- DOI: 10.1136/jmg.38.8.533
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A region of homozygosity within 22q11.2 associated with congenital heart disease: recessive DiGeorge/velocardiofacial syndrome?
Henwood, J, Pickard, C, Leek, J, Bennett, C, Crow, YJ, Thompson, J, Ahmed, M, Watterson, K, Parsons, J, Roberts, E, Lench, N
J Med Genet. 2001;38( 8):533-6.
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Full-text held externally
- DOI: 10.1136/jmg.38.8.533
Keyword(s)
Chromosome Deletion; Consanguinity; Family Health; Fatal Outcome; Heterozygote; Homozygote; Humans; Infant; Infant, Newborn; Microsatellite Repeats; Pedigree; Phenotype; Syndrome; genetics: Abnormalities, Multiple; genetics: Chromosomes, Human, Pair 22; genetics: DiGeorge Syndrome; genetics: Heart Defects, Congenital; pathology: Craniofacial Abnormalities