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pro vyhledávání: '"Patrice Olivier Lazeran"'
Autor:
Christine Fardeau, Munirah Alafaleq, Claire‐Marie Dhaenens, Hélène Dollfus, Isabelle Koné‐Paut, Olivier Grunewald, Jean‐Baptiste Morel, Cherif Titah, David Saadoun, Patrice Olivier Lazeran, Isabelle Meunier
Publikováno v:
Clinical Genetics. 103:453-458
To suggest a unique missense variant candidate based on long-term ophthalmological changes and associated systemic signs described in five patients from two unrelated families affected by an autosomal dominant multi-systemic disorder including Retina