Deletion in the BCL11B Gene and Intellectual Developmental Disorder with Speech Delay, Dysmorphic Facies, and T-cell Abnormalities – a Case Report

Herein we described a retrospective analysis of a 13-year-old female patient with facial dysmorphia and immune disorder caused by BCL11B gene mutation. The patient upon physical examination presented a particular face (thin eyebrows, small mandible, and widened eye distance), delayed language and mo...

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Detalles Bibliográficos
Autores principales: Roa-Bautista, Adriel, López-Duarte, Mónica, Paz-Gandiaga, Nerea, San Segundo Arribas, David, Ocejo-Vinyals, J. Gonzalo
Formato: Online Artículo Texto
Lenguaje:English
Publicado: The Communications and Publications Division (CPD) of the IFCC 2022
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9768616/
https://www.ncbi.nlm.nih.gov/pubmed/36605301

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9768616/
https://www.ncbi.nlm.nih.gov/pubmed/36605301

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