Literature DB >> 25858762

An additional clinical sign of 17q21.31 microdeletion syndrome: preaxial polydactyly of hands with broad thumbs.

Chiara Barone1, Antonio Novelli2, Anna Capalbo3, Antonella Cataliotti Del Grano1, Maria Grazia Giuffrida3, Lara Indaco1, Sebastiano Bianca1.   

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Year:  2015        PMID: 25858762     DOI: 10.1002/ajmg.a.37054

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


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  3 in total

1.  The Koolen-de Vries syndrome: a phenotypic comparison of patients with a 17q21.31 microdeletion versus a KANSL1 sequence variant.

Authors:  David A Koolen; Rolph Pfundt; Katrin Linda; Gea Beunders; Hermine E Veenstra-Knol; Jessie H Conta; Ana Maria Fortuna; Gabriele Gillessen-Kaesbach; Sarah Dugan; Sara Halbach; Omar A Abdul-Rahman; Heather M Winesett; Wendy K Chung; Marguerite Dalton; Petia S Dimova; Teresa Mattina; Katrina Prescott; Hui Z Zhang; Howard M Saal; Jayne Y Hehir-Kwa; Marjolein H Willemsen; Charlotte W Ockeloen; Marjolijn C Jongmans; Nathalie Van der Aa; Pinella Failla; Concetta Barone; Emanuela Avola; Alice S Brooks; Sarina G Kant; Erica H Gerkes; Helen V Firth; Katrin Õunap; Lynne M Bird; Diane Masser-Frye; Jennifer R Friedman; Modupe A Sokunbi; Abhijit Dixit; Miranda Splitt; Mary K Kukolich; Julie McGaughran; Bradley P Coe; Jesús Flórez; Nael Nadif Kasri; Han G Brunner; Elizabeth M Thompson; Jozef Gecz; Corrado Romano; Evan E Eichler; Bert B A de Vries
Journal:  Eur J Hum Genet       Date:  2015-08-26       Impact factor: 4.246

2.  Molecular Characterization of Koolen De Vries Syndrome in Two Girls with Idiopathic Intellectual Disability from Central Brazil.

Authors:  Gustavo R Nascimento; Irene P Pinto; Aldaires V de Melo; Damiana M da Cruz; Cristiano L Ribeiro; Claudio C da Silva; Aparecido D da Cruz; Lysa B Minasi
Journal:  Mol Syndromol       Date:  2017-02-24

3.  Human disease genes website series: An international, open and dynamic library for up-to-date clinical information.

Authors:  Alexander J M Dingemans; Diante E Stremmelaar; Lisenka E L M Vissers; Sandra Jansen; Maria J Nabais Sá; Angela van Remortele; Noraly Jonis; Kim Truijen; Sam van de Ven; Jeroen Ewals; Michel Verbruggen; David A Koolen; Han G Brunner; Evan E Eichler; Jozef Gecz; Bert B A de Vries
Journal:  Am J Med Genet A       Date:  2021-01-13       Impact factor: 2.802

  3 in total

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