Severe pseudoachondroplasia with parental consanguinity.
Open Access
- 1 April 1985
- journal article
- case report
- Published by BMJ in Journal of Medical Genetics
- Vol. 22 (2) , 150-153
- https://doi.org/10.1136/jmg.22.2.150
Abstract
A boy who showed features of the severe form of pseudoachondroplasia, whose parents were first cousins, is reported. Published reports supporting the existence of an autosomal recessive form of this disorder are reviewed.Keywords
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