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Review and update of mutations causing Waardenburg syndrome.
Véronique Pingault
,
Dorothée Ente
,
Florence Dastot-Le Moal
,
Michel Goossens
,
Sandrine Marlin
,
et al.
Journal articles
inserm-00483195v1
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Deletions at the SOX10 gene locus cause Waardenburg syndrome types 2 and 4.
Nadège Bondurand
,
Florence Dastot-Le Moal
,
Laure Stanchina
,
Nathalie Collot
,
Viviane Baral
,
et al.
Journal articles
inserm-00196715v1
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LKB1 specifies neural crest cell fates through pyruvate-alanine cycling
Anca Radu
,
Sakina Torch
,
Florence Fauvelle
,
Karin Pernet-Gallay
,
Anthony Lucas
,
et al.
Journal articles
hal-02328640v1
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Identification and functional analysis of SOX10 missense mutations in different subtypes of Waardenburg syndrome.
Asma Chaoui
,
Yuli Watanabe
,
Renaud Touraine
,
Viviane Baral
,
Michel Goossens
,
et al.
Journal articles
istex
inserm-00655828v1
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Novel and recurrent non-truncating mutations of the MITF basic domain: genotypic and phenotypic variations in Waardenburg and Tietz syndromes.
Sandy Léger
,
Xavier Balguerie
,
Alice Goldenberg
,
Valérie Drouin-Garraud
,
Annick Cabot
,
et al.
Journal articles
inserm-00696260v1
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A homozygous PAX3 mutation leading to severe presentation of Waardenburg syndrome with a prenatal diagnosis
Eve Mousty
,
Sarah Issa
,
Frédéric Grosjean
,
Jean-Yves Col
,
Philippe Khau van Kien
,
et al.
Journal articles
istex
hal-03579374v1
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