Literature DB >> 4038851

Male-to-male transmission of the hypertelorism-hypospadias (BBB) syndrome.

C Stoll, A Geraudel, H Berland, M P Roth, B Dott.   

Abstract

A boy and his father with the hypertelorism-hypospadias (BBB) syndrome are described. This example of male-to-male transmission is evidence that the BBB syndrome is not due to an X-linked gene.

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Mesh：

Year:  1985        PMID： 4038851     DOI： 10.1002/ajmg.1320200203

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


  3 in total

Review 1.  The telecanthus-hypospadias syndrome.

Authors:  C A Stevens; R S Wilroy
Journal:  J Med Genet       Date:  1988-08       Impact factor: 6.318

2.  Mutations in SPECC1L, encoding sperm antigen with calponin homology and coiled-coil domains 1-like, are found in some cases of autosomal dominant Opitz G/BBB syndrome.

Authors:  Paul Kruszka; Dong Li; Margaret H Harr; Nathan R Wilson; Daniel Swarr; Elizabeth M McCormick; Rosetta M Chiavacci; Mindy Li; Ariel F Martinez; Rachel A Hart; Donna M McDonald-McGinn; Matthew A Deardorff; Marni J Falk; Judith E Allanson; Cindy Hudson; John P Johnson; Irfan Saadi; Hakon Hakonarson; Maximilian Muenke; Elaine H Zackai
Journal:  J Med Genet       Date:  2014-11-20       Impact factor: 6.318

3.  Two brothers with characteristic facial appearance, severe psychomotor retardation, hypospadias, contractures, and other symptoms: a new recessive syndrome?

Authors:  G Wolff; E Zimmermann; B Zimmerhackl; C Harnasch; C Jung; E Back
Journal:  J Med Genet       Date:  1994-01       Impact factor: 6.318
  3 in total

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