Occurrence of the alpha thalassaemia-mental retardation syndrome (non-deletional type) in an Australian male.
Open Access
- 1 September 1990
- journal article
- case report
- Published by BMJ in Journal of Medical Genetics
- Vol. 27 (9) , 577-581
- https://doi.org/10.1136/jmg.27.9.577
Abstract
A child with meningomyelocele, and other spinal anomalies, was born to a woman with three sibs who had spondylolisthesis and whose father and two of his sibs had a history of back problems. The suggestion is made that these anomalies represent a pattern of autosomal dominant inheritance with variable expressivity.Keywords
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