Literature DB >> 12567419

Teebi hypertelorism syndrome: additional cases.

Ligiane Alves Machado-Paula1, Maria Leine Guion-Almeida.   

Abstract

We report on two unrelated Brazilian boys who have craniofacial and digital anomalies resembling those reported with Teebi hypertelorism syndrome. Additional features such as cleft lip and palate, large uvula, atypical chin and abnormal scapulae were observed. Copyright 2002 Wiley-Liss, Inc.

Entities:  

Mesh：

Year:  2003        PMID： 12567419     DOI： 10.1002/ajmg.a.10919

Source DB:  PubMed          Journal:  Am J Med Genet A        ISSN： 1552-4825            Impact factor:   2.802


  3 in total

1.  Baraitser-Winter cerebrofrontofacial syndrome: delineation of the spectrum in 42 cases.

Authors:  Alain Verloes; Nataliya Di Donato; Julien Masliah-Planchon; Marjolijn Jongmans; Omar A Abdul-Raman; Beate Albrecht; Judith Allanson; Han Brunner; Debora Bertola; Nicolas Chassaing; Albert David; Koen Devriendt; Pirayeh Eftekhari; Valérie Drouin-Garraud; Francesca Faravelli; Laurence Faivre; Fabienne Giuliano; Leina Guion Almeida; Jorge Juncos; Marlies Kempers; Hatice Koçak Eker; Didier Lacombe; Angela Lin; Grazia Mancini; Daniela Melis; Charles Marques Lourenço; Victoria Mok Siu; Gilles Morin; Marjan Nezarati; Malgorzata J M Nowaczyk; Jeanette C Ramer; Sara Osimani; Nicole Philip; Mary Ella Pierpont; Vincent Procaccio; Zeichi-Seide Roseli; Massimiliano Rossi; Cristina Rusu; Yves Sznajer; Ludivine Templin; Vera Uliana; Mirjam Klaus; Bregje Van Bon; Conny Van Ravenswaaij; Bruce Wainer; Andrew E Fry; Andreas Rump; Alexander Hoischen; Séverine Drunat; Jean-Baptiste Rivière; William B Dobyns; Daniela T Pilz
Journal:  Eur J Hum Genet       Date:  2014-07-23       Impact factor: 4.246

2.  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.  Pathogenic variants in CDH11 impair cell adhesion and cause Teebi hypertelorism syndrome.

Authors:  Dong Li; Michael E March; Paola Fortugno; Liza L Cox; Leticia S Matsuoka; Rosanna Monetta; Christoph Seiler; Louise C Pyle; Emma C Bedoukian; María José Sánchez-Soler; Oana Caluseriu; Katheryn Grand; Allison Tam; Alicia R P Aycinena; Letizia Camerota; Yiran Guo; Patrick Sleiman; Bert Callewaert; Candy Kumps; Annelies Dheedene; Michael Buckley; Edwin P Kirk; Anne Turner; Benjamin Kamien; Chirag Patel; Meredith Wilson; Tony Roscioli; John Christodoulou; Timothy C Cox; Elaine H Zackai; Francesco Brancati; Hakon Hakonarson; Elizabeth J Bhoj
Journal:  Hum Genet       Date:  2021-04-03       Impact factor: 5.881
  3 in total

北京卡尤迪生物科技股份有限公司 © 2022-2023.