A novel mutation in the MAGEL2 gene in a patient with arthrogryposis, severe global developmental delay and autistic features

التفاصيل البيبلوغرافية
العنوان: A novel mutation in the MAGEL2 gene in a patient with arthrogryposis, severe global developmental delay and autistic features
المؤلفون: D. Ardicli, S.B. Agullo, Francesco Muntoni, Steven Laurie, Irina Zaharieva, Mariacristina Scoto, L.M. Borrel, Anna Sarkozy, Rahul Phadke
المصدر: Neuromuscular Disorders. 28:S36-S37
بيانات النشر: Elsevier BV, 2018.
سنة النشر: 2018
مصطلحات موضوعية: Arthrogryposis, Genetics, Neurology, MAGEL2 gene, Pediatrics, Perinatology and Child Health, medicine, Autistic features, Neurology (clinical), Global developmental delay, medicine.symptom, Biology, Novel mutation, Genetics (clinical)
تدمد: 0960-8966
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::1d410ff15d648a672c0309af1931388bTest
https://doi.org/10.1016/s0960-8966Test(18)30400-0
حقوق: CLOSED
رقم الانضمام: edsair.doi...........1d410ff15d648a672c0309af1931388b
قاعدة البيانات: OpenAIRE