Literature DB >> 6652958

Male to male transmission of the G syndrome.

P A Farndon, D Donnai.   

Abstract

A father and son with hypertelorism and hypospadias are reported. The father has further, relatively mild, signs of the G syndrome, but his son has severe manifestations, including stridor, feeding difficulties and cardiac anomalies. This supports autosomal dominant inheritance.

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Year:  1983        PMID： 6652958     DOI： 10.1111/j.1399-0004.1983.tb00101.x

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


  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.  Phenotypic spectrum associated with SPECC1L pathogenic variants: new families and critical review of the nosology of Teebi, Opitz GBBB, and Baraitser-Winter syndromes.

Authors:  Elizabeth J Bhoj; Damien Haye; Annick Toutain; Dominique Bonneau; Irene Kibæk Nielsen; Ida Bay Lund; Pauline Bogaard; Stine Leenskjold; Kadri Karaer; Katherine T Wild; Katheryn L Grand; Mirena C Astiazaran; Luis A Gonzalez-Nieto; Ana Carvalho; Daphné Lehalle; Shivarajan M Amudhavalli; Elena Repnikova; Carol Saunders; Isabelle Thiffault; Irfan Saadi; Dong Li; Hakon Hakonarson; Yoann Vial; Elaine Zackai; Patrick Callier; Séverine Drunat; Alain Verloes
Journal:  Eur J Med Genet       Date:  2018-11-22       Impact factor: 2.465
  3 in total

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