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Observations Suggesting Allelism of the Achondroplasia and Hypochondroplasia Genes.

Authors :
McKusick, Victor A.
Kelly, Thaddeus E.
Dorst, John P.
Source :
Journal of Medical Genetics; Mar1973, Vol. 10 Issue 1, p11-16, 6p, 3 Black and White Photographs
Publication Year :
1973

Abstract

It is argued that there are at least two alleles at the achondroplasia locus: one responsible for classic achondroplasia and one responsible for hypochondroplasia. Homozygosity for the achondroplasia gene produces a lethal skeletal dysplasia; homozygosity for hypochondroplasia has not been described. We report here a child considered to be a genetic compound for the achondroplasia and hypochondroplasia alleles. [ABSTRACT FROM PUBLISHER]

Details

Language :
English
ISSN :
00222593
Volume :
10
Issue :
1
Database :
Complementary Index
Journal :
Journal of Medical Genetics
Publication Type :
Academic Journal
Accession number :
66058713