Diagnosi precoce dei disturbi dello spettro autistico: esperienza clinica e ruolo dei test genetici

6533b839fe1ef96bd12a6757

RESEARCH PRODUCT

Diagnosi precoce dei disturbi dello spettro autistico: esperienza clinica e ruolo dei test genetici

Claudia Sciarrotta Irene Bona Antonina Lo Cascio Giovanni Corsello

subject

Autistic spectrum disorder Genetic tests Pediatrics Perinatology and Child Health

description

The case of an infant diagnosed with Autistic Spectrum Disorders (ASD) associated to a maternal segregated micro duplication (Xp21.2 region involving IL1RAPL1 and NR0B1 genes) is described. The role of the genetic test in approaching the diagnosis and the therapy of ASD is discussed.

year	journal	country	edition	language
2022-05-20	Medico e Bambino

https://doi.org/10.53126/meb41328

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