Literature DB >> 2355711

[Morphogenetic variants in parents of children with recessive malformation syndromes].

K Méhes1.   

Abstract

Informative morphogenetic variants (minor congenital anomalies) were investigated and anthropometric measurements were carried out in 17 apparently healthy mothers and fathers (parents) of 10 children with various, presumably autosomal recessive, multiple malformation syndromes. In 4 of them mild but characteristic features of the syndrome of their affected offspring could be identified. This was particularly conspicuous in the mother of a child with Dubowitz syndrome. A more thorough examination of the parents and siblings is urged for the sake of correct determination of inheritance.

Entities:  

Mesh:

Year:  1990        PMID: 2355711

Source DB:  PubMed          Journal:  Kinderarztl Prax        ISSN: 0023-1495


  1 in total

1.  Whole exome sequencing identifies a splicing mutation in NSUN2 as a cause of a Dubowitz-like syndrome.

Authors:  Fernando Jose Martinez; Jeong Ho Lee; Ji Eun Lee; Sandra Blanco; Elizabeth Nickerson; Stacey Gabriel; Michaela Frye; Lihadh Al-Gazali; Joseph G Gleeson
Journal:  J Med Genet       Date:  2012-05-10       Impact factor: 6.318

  1 in total

北京卡尤迪生物科技股份有限公司 © 2022-2023.