The emerging genetic landscape of cerebral palsy

التفاصيل البيبلوغرافية
العنوان: The emerging genetic landscape of cerebral palsy
المؤلفون: C. L. van Eyk, Alastair H. MacLennan, Mark A. Corbett
بيانات النشر: Elsevier, 2018.
سنة النشر: 2018
مصطلحات موضوعية: 0301 basic medicine, Heterogeneous group, business.industry, MEDLINE, Genetic variants, medicine.disease, Bioinformatics, Cerebral palsy, 03 medical and health sciences, 030104 developmental biology, 0302 clinical medicine, Etiology, Medicine, Copy-number variation, business, 030217 neurology & neurosurgery
الوصف: Cerebral palsy (CP) is a broad clinical descriptor that encompasses a heterogeneous group of nonprogressive neurodevelopmental disabilities affecting movement and posture. While linked by the presence of damage to the developing brain, the etiology of CP is likely varied and the clinical outcomes are diverse. There is now a large body of evidence supporting a significant role for genetics in causation of CP. An increasing number of studies have identified likely causative genetic variants in families with CP, as well as in individual sporadic cases. Next-generation sequencing is now aiding clinicians in making specific molecular diagnoses, providing future opportunities for tailored treatments and for informed reproductive decisions.
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::f61e95454958ea060a830ec73f3a81c0Test
https://doi.org/10.1016/b978-0-444-63233-3.00022-1Test
حقوق: CLOSED
رقم الانضمام: edsair.doi...........f61e95454958ea060a830ec73f3a81c0
قاعدة البيانات: OpenAIRE