Literature DB >> 8375102

The hand-foot-genital syndrome: on the variable expression in affected males.

J P Fryns1, A Vogels, P Decock, H van den Berghe.   

Abstract

In this report we document male-to-male transmission in the hand-foot-genital syndrome. An affected father transmitted the syndrome to his three sons. A grade IV hypospadias, which was the most severe genital anomaly in affected males, was present in the youngest, moderately mentally retarded microcephalic male sibling.

Entities:  

Mesh:

Year:  1993        PMID: 8375102     DOI: 10.1111/j.1399-0004.1993.tb03808.x

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


  3 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

  3 in total

北京卡尤迪生物科技股份有限公司 © 2022-2023.