Pitfalls in Genetic Testing for Consanguineous Pediatric Populations

We describe the diagnostic odyssey of an eight-year-old female born to consanguineous parents. Our patient presented with global developmental delay, regression, microcephaly, spastic diplegia, and leukodystrophy confirmed on brain magnetic resonance imaging (MRI). She was found on whole exome seque...

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Detalles Bibliográficos
Autores principales: Saleh, Maha, Colaiacovo, Samantha, Napier, Melanie P., Prasad, Asuri N., Rupar, C. Anthony, Prasad, Chitra
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Hindawi 2022
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9159873/
https://www.ncbi.nlm.nih.gov/pubmed/35663206
http://dx.doi.org/10.1155/2022/9393042

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9159873/
https://www.ncbi.nlm.nih.gov/pubmed/35663206
http://dx.doi.org/10.1155/2022/9393042

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