STAG1 mutations cause a novel cohesinopathy characterised by unspecific syndromic intellectual disability.

Abstract : Cohesinopathies are rare neurodevelopmental disorders arising from a dysfunction in the cohesin pathway, which enables chromosome segregation and regulates gene transcription. So far, eight genes from this pathway have been reported in human disease. STAG1 belongs to the STAG subunit of the core cohesin complex, along with five other subunits. This work aimed to identify the phenotype ascribed to STAG1 mutations.
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Journal of Medical Genetics, BMJ Publishing Group, 2017, 54 (7), pp.479-488. 〈10.1136/jmedgenet-2016-104468〉
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https://hal-univ-bourgogne.archives-ouvertes.fr/hal-01549105
Contributeur : Gad - Université de Bourgogne <>
Soumis le : mercredi 28 juin 2017 - 15:07:04
Dernière modification le : jeudi 20 septembre 2018 - 16:14:05

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Daphne Lehalle, Anne-Laure Mosca-Boidron, Yannis Duffourd, Laurence Duplomb Jego, Paul Kuentz, et al.. STAG1 mutations cause a novel cohesinopathy characterised by unspecific syndromic intellectual disability.. Journal of Medical Genetics, BMJ Publishing Group, 2017, 54 (7), pp.479-488. 〈10.1136/jmedgenet-2016-104468〉. 〈hal-01549105〉

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