Importance of Genetic Diagnosis in Global Developmental Delay: A Case of Cabezas Syndrome Caused by CUL4B Gene Deletion and Not Identified by Array-CHG

Global developmental delay (GDD) and intellectual disability (ID) are common reasons for referral to neurodevelopmental assessment. The etiology of GDD and ID can be genetic, acquired, or multifactorial. We report a case of a 10-year-old boy with ID and GDD who was diagnosed with Cabezas syndrome, a...

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Detalles Bibliográficos
Autores principales: Magalhães, Teresa L, Viegas, Mariana V, Mendonça, Catarina, Travessa, André, Soares, Daniel
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Cureus 2023
Materias:
Pediatrics
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10602199/
https://www.ncbi.nlm.nih.gov/pubmed/37900499
http://dx.doi.org/10.7759/cureus.46010

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10602199/
https://www.ncbi.nlm.nih.gov/pubmed/37900499
http://dx.doi.org/10.7759/cureus.46010

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