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Am J Med Genet. 1985 Apr;20(4):639-48.

Familial microcephaly with normal intelligence, immunodeficiency, and risk for lymphoreticular malignancies: a new autosomal recessive disorder.

Abstract

We describe nine patients with an apparently new genetic disorder characterized by: microcephaly with normal intelligence; "bird"-like facial appearance; cellular and humoral immune defects; and increased risk for lymphoreticular malignancies. The postmortem findings of five patients are described. Chromosome instability appears not to be a component of the disorder. The occurrence in three pairs of sibs and isonomy in another family suggests autosomal recessive inheritance.

PMID:
3857858
DOI:
10.1002/ajmg.1320200410
[Indexed for MEDLINE]
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