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Genetic Heterogeneity of Cebocephaly

Genetic Heterogeneity of Cebocephaly Three infants with cebocephaly with entirely different aetiologies are described: one possibly representing the effect of a single mutant gene, one with apparent E trisomy, and one with D trisomy. In comparison with other reported patients, it is likely that infants with cebocephaly and no associated chromosomal abnormality have few, if any, extracranial malformations. http://www.deepdyve.com/assets/images/DeepDyve-Logo-lg.png Journal of Medical Genetics British Medical Journal

Genetic Heterogeneity of Cebocephaly

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Genetic Heterogeneity of Cebocephaly

Holmes, Lewis B.; Driscoll, Shirley; Atkins, Leonard
Journal of Medical Genetics , Volume 11 (1) – Mar 1, 1974

Abstract


Three infants with cebocephaly with entirely different aetiologies are described: one possibly representing the effect of a single mutant gene, one with apparent E trisomy, and one with D trisomy. In comparison with other reported patients, it is likely that infants with cebocephaly and no associated chromosomal abnormality have few, if any, extracranial malformations.

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References (28)

Publisher
British Medical Journal
ISSN
0022-2593
eISSN
1468-6244
DOI
10.1136/jmg.11.1.35
Publisher site
See Article on Publisher Site

Abstract

Three infants with cebocephaly with entirely different aetiologies are described: one possibly representing the effect of a single mutant gene, one with apparent E trisomy, and one with D trisomy. In comparison with other reported patients, it is likely that infants with cebocephaly and no associated chromosomal abnormality have few, if any, extracranial malformations.

Journal

Journal of Medical Genetics – British Medical Journal

Published: Mar 1, 1974

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