Literature DB >> 7296944

Dominant inheritance of microcephaly with short stature.

B K Burton.   

Abstract

A family is reported in which microcephaly has been observed in at least three generations. The pedigree is most consistent with autosomal dominant inheritance. In addition to microcephaly, affected individuals exhibit significantly short stature, ocular anomalies and simple, protruding ears. Intellectual function is in the normal or borderline range.

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Year:  1981        PMID: 7296944     DOI: 10.1111/j.1399-0004.1981.tb01801.x

Source DB:  PubMed          Journal:  Clin Genet        ISSN: 0009-9163            Impact factor:   4.438


  3 in total

1.  Pygmoid Australomelanesian Homo sapiens skeletal remains from Liang Bua, Flores: population affinities and pathological abnormalities.

Authors:  T Jacob; E Indriati; R P Soejono; K Hsü; D W Frayer; R B Eckhardt; A J Kuperavage; A Thorne; M Henneberg
Journal:  Proc Natl Acad Sci U S A       Date:  2006-08-23       Impact factor: 11.205

2.  Autosomal dominant isolated ('uncomplicated') microcephaly.

Authors:  P Merlob; D Steier; S H Reisner
Journal:  J Med Genet       Date:  1988-11       Impact factor: 6.318

3.  The etiologic patterns in microcephaly with mental retardation.

Authors:  K M Prasad; S R Girimaji; K R Manjunatha; N Khanna; B S Rao; V Ravi; R S Murthy; K R Vani
Journal:  Indian J Psychiatry       Date:  1995-04       Impact factor: 1.759

  3 in total

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