Literature DB >> 3706402

A genetic association between microcephaly and lymphedema.

C A Crowe, L H Dickerman.   

Abstract

We discuss a family in which microcephaly and lymphedema are co-segregating as an apparently autosomal or X-linked dominant trait. A review of each malformation is presented with reference to the known genetic patterns of each. This combination of microcephaly and lymphedema may be a unique syndrome, previously undescribed because of subtleties of expression in affected individuals.

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Year:  1986        PMID: 3706402     DOI: 10.1002/ajmg.1320240116

Source DB:  PubMed          Journal:  Am J Med Genet        ISSN: 0148-7299


  3 in total

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

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

2.  The swollen leg and primary lymphoedema.

Authors:  N B Wright; H M Carty
Journal:  Arch Dis Child       Date:  1994-07       Impact factor: 3.791

3.  Identification of novel KIF11 mutations in patients with familial exudative vitreoretinopathy and a phenotypic analysis.

Authors:  Jia-Kai Li; Ping Fei; Yian Li; Qiu-Jing Huang; Qi Zhang; Xiang Zhang; Yu-Qing Rao; Jing Li; Peiquan Zhao
Journal:  Sci Rep       Date:  2016-05-23       Impact factor: 4.379

  3 in total

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