Expanding the clinical spectrum of recessive truncating mutations of KLHL7 to a Bohring-Opitz-like phenotype

Ange-Line Bruel 1, 2, * Stefania Bigoni 3, 4 Joanna Kennedy 5 Margo Whiteford 6 Chris Buxton 7 Giulia Parmeggiani 3, 4 Matt Wherlock 7 Geoff Woodward 7 Mark Greenslade 7 Maggie Williams 7 Judith St-Onge 8 Alessandra Ferlini 3, 4 Giampaolo Garani 9 Elisa Ballardini 9 Bregje W Van Bon 10 Rocio Acuna-Hidalgo 10 Axel Bohring 11 Jean-Francois Deleuze 12 Anne Boland 12 Vincent Meyer 12 Robert Olaso 12 Emmanuelle Ginglinger 13 Ddd Study 14 Jean-Baptiste Rivière 15 Han G Brunner 16 Alexander Hoischen 17 Ruth Newbury-Ecob 18 Laurence Faivre 1, 2 Christel Thauvin-Robinet 2, 1 Julien Thevenon 2, 1, 19, *
Abstract : Bohring-Opitz syndrome (BOS) is a rare genetic disorder characterised by a recognisable craniofacial appearance and a typical 'BOS' posture. BOS is caused by sporadic mutations ofASXL1. However, several typical patients with BOS have no molecular diagnosis, suggesting clinical and genetic heterogeneity.
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https://hal-univ-bourgogne.archives-ouvertes.fr/hal-01625676
Contributeur : Lnc - Université de Bourgogne <>
Soumis le : samedi 28 octobre 2017 - 10:53:55
Dernière modification le : vendredi 8 juin 2018 - 14:50:25

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Ange-Line Bruel, Stefania Bigoni, Joanna Kennedy, Margo Whiteford, Chris Buxton, et al.. Expanding the clinical spectrum of recessive truncating mutations of KLHL7 to a Bohring-Opitz-like phenotype. Journal of Medical Genetics, BMJ Publishing Group, 2017, 〈http://jmg.bmj.com/content/early/2017/10/26/jmedgenet-2017-104748〉. 〈10.1136/jmedgenet-2017-104748〉. 〈hal-01625676〉

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