Literature DB >> 1442892

Update on a family with hand-foot-genital syndrome: hypospadias and urinary tract abnormalities in two boys from the fourth generation.

A E Donnenfeld1, D S Schrager, S L Corson.   

Abstract

We describe a fourth generation of involvement with hand-foot-genital syndrome. The first 3 generations of this family, which included 5 affected females and no affected males, were reported previously by Verp et al. [1983]. In the fourth generation, 2 affected males are identified. To our knowledge, the findings of bilateral vesicoureteral reflux in one boy and bilateral ureteropelvic junction obstruction in his cousin represent the first reports of urinary tract abnormalities in males with this syndrome.

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Year:  1992        PMID: 1442892     DOI: 10.1002/ajmg.1320440419

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


  4 in total

1.  Novel HOXA13 mutations and the phenotypic spectrum of hand-foot-genital syndrome.

Authors:  F R Goodman; C Bacchelli; A F Brady; L A Brueton; J P Fryns; D P Mortlock; J W Innis; L B Holmes; A E Donnenfeld; M Feingold; F A Beemer; R C Hennekam; P J Scambler
Journal:  Am J Hum Genet       Date:  2000-06-05       Impact factor: 11.025

2.  A missense mutation of HOXA13 underlies hand-foot-genital syndrome in a Chinese family.

Authors:  Lihua Cao; Chen Chen; Yunji Leng; Lulu Yan; Shusen Wang; Xue Zhang; Yang Luo
Journal:  J Genet       Date:  2017-09       Impact factor: 1.166

Review 3.  Hypospadias and endocrine disruption: is there a connection?

Authors:  L S Baskin; K Himes; T Colborn
Journal:  Environ Health Perspect       Date:  2001-11       Impact factor: 9.031

4.  Bisphenol A exposure alters developmental gene expression in the fetal rhesus macaque uterus.

Authors:  Kathryn C Calhoun; Elizabeth Padilla-Banks; Wendy N Jefferson; Liwen Liu; Kevin E Gerrish; Steven L Young; Charles E Wood; Patricia A Hunt; Catherine A Vandevoort; Carmen J Williams
Journal:  PLoS One       Date:  2014-01-23       Impact factor: 3.240

  4 in total

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