Patients carrying Arg1809 substitution with no choroidal abnormalities: a further proof of a 'Quasi-Incomplete' NF1 phenotype

التفاصيل البيبلوغرافية
العنوان: Patients carrying Arg1809 substitution with no choroidal abnormalities: a further proof of a 'Quasi-Incomplete' NF1 phenotype
المؤلفون: Claudia Santoro, Rosa Boccia, Claudio Iovino, Giulio Piluso, Silverio Perrotta, Francesca Simonelli
المساهمون: Santoro, Claudia, Boccia, Rosa, Iovino, Claudio, Piluso, Giulio, Perrotta, Silverio, Simonelli, Francesca
المصدر: European Journal of Human Genetics. 31:136-137
بيانات النشر: Springer Science and Business Media LLC, 2022.
سنة النشر: 2022
مصطلحات موضوعية: Genetics, Genetics (clinical)
تدمد: 1476-5438
1018-4813
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3a7d8eac2f6ddd983909155b5491474bTest
https://doi.org/10.1038/s41431-022-01236-1Test
حقوق: CLOSED
رقم الانضمام: edsair.doi.dedup.....3a7d8eac2f6ddd983909155b5491474b
قاعدة البيانات: OpenAIRE