The Expanding Role of Genetics in Cerebral Palsy - 22/11/19
Riassunto |
Cerebral palsy is a clinical diagnosis of a nonprogressive developmental disorder of motor impairment. The scope of the diagnosis of cerebral palsy has been broadening significantly in recent years to include patients with genetic disorders. This article helps clinicians to determine which patients would benefit from a thorough genetic/metabolic evaluation and helps to delineate an approach for the work-up, with an emphasis on newer technologies and the evolving fields of fetal medicine and genetics. It provides guidance to providers to assist in clarifying an cause for some patient's symptoms.
Il testo completo di questo articolo è disponibile in PDF.Keywords : Cerebral palsy, Genetics, Exome sequencing
Mappa
Funding: Dr Emrick received some funding as a part of the Undiagnosed Diseases Network, NIH Common Fund, through the Office of Strategic Coordination in the Office of the NIH Director under award number U01HG007709. |
Vol 31 - N° 1
P. 15-24 - Febbraio 2020 Ritorno al numeroBenvenuto su EM|consulte, il riferimento dei professionisti della salute.
L'accesso al testo integrale di questo articolo richiede un abbonamento.
Già abbonato a @@106933@@ rivista ?