Autosomal recessive onychotrichodysplasia, chronic neutropenia and mild mental retardation
- 23 April 2008
- journal article
- research article
- Published by Wiley in Clinical Genetics
- Vol. 15 (2) , 147-152
- https://doi.org/10.1111/j.1399-0004.1979.tb01753.x
Abstract
The occurrence in 2 sisters of a syndrome consisting of onychotrichodysplasia, chronic neutropenia and mild mental retardation is described. Family studies revealed parental consanguinity and another possibly affected sister, who died in childhood. Analysis of these cases together with 1 previously reported case permits the delineation of a distinct syndrome probably caused by an autosomal recessive mutation.Keywords
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