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- Extended clinical and genetic spectrum associated with biallelic RTEL1 mutations
Extended clinical and genetic spectrum associated with biallelic RTEL1 mutations
Auteurs
Fabien Touzot, Laetitia Kermasson, Laurent Jullien, Despina Moshous, Christelle Ménard, Aydan Ikincioğullari, Figen Doğu, Sinan Sari, Vannina Giacobbi-Milet, Amos Etzioni, Jean Soulier, Arturo Londono-Vallejo, Alain Fischer, Isabelle Callebaut, Jean-Pierre de Villartay, Thierry Leblanc, Caroline Kannengiesser, Patrick Revy
Résumé
Key Points
Biallelic RTEL1 mutations generate a large clinical spectrum ranging from classical Hoyeraal-Hreidarsson syndrome to isolated aplastic anemia.
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