Literature DB >> 3211858

Microcephaly, holoprosencephaly, hypokinesia--second report of a new syndrome.

A Hockey1, J Crowhurst, G Cullity.   

Abstract

Two still-born males whose mothers were sisters are presented. The features holoprosencephaly, hypokinesia, microcephaly, talipes, and other contractures correspond to those in the two male sibs reported by Morse et al. (1987). We suggest that our cases now provide evidence of an X-linked rather than an autosomal recessive new syndrome.

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Year:  1988        PMID: 3211858     DOI: 10.1002/pd.1970080909

Source DB:  PubMed          Journal:  Prenat Diagn        ISSN: 0197-3851            Impact factor:   3.050


  2 in total

1.  Holoprosencephaly in the west of Scotland 1975-1994.

Authors:  M L Whiteford; J L Tolmie
Journal:  J Med Genet       Date:  1996-07       Impact factor: 6.318

2.  Variant in the X-chromosome spliceosomal gene GPKOW causes male-lethal microcephaly with intrauterine growth restriction.

Authors:  Renée Carroll; Raman Kumar; Marie Shaw; Jennie Slee; Vera M Kalscheuer; Mark A Corbett; Jozef Gecz
Journal:  Eur J Hum Genet       Date:  2017-06-14       Impact factor: 4.246

  2 in total

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