What is it about?
The objective of this study was to determine the genetic etiology of these disorders in patients with congenital neurological conditions and clinical suspicion of a genetic disorder using a clinical and molecular testing algorithm
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Why is it important?
In most cases, the use of a clinical method together with molecular techniques, such as fluorescence in situ hybridization, has allowed to make an accurate diagnosis in patients and/or families with neurodevelopmental disorders.
Perspectives
The use of the proposed working algorithm helped to make an accurate diagnosis of patients and/or families with NDD and clinical suspicion of a genetic disorder.
PhD Luis Alberto Mendez-Rosado
CNGM
Read the Original
This page is a summary of: Algorithm for the diagnosis of patients with neurodevelopmental disorders and suspicion of a genetic syndrome, Archivos Argentinos de Pediatria, February 2020, Sociedad Argentina de Pediatria,
DOI: 10.5546/aap.2020.eng.52.
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