Multiple copy number variation in a patient with Kleefstra syndrome

OBJECTIVE: To report a rare case of a patient with a molecular diagnosis of Kleefstra syndrome (KS) who has four other chromosomal alterations involving pathogenic variants. CASE DESCRIPTION: Male patient, two years old, with global delay, including in neuropsychomotor development, ocular hypertelor...

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Detalles Bibliográficos
Autores principales: Lee, Thomas Nohama, Rechetello, Henrique El Laden, Lima, João Batista De Arêa, Cornelio, João Pedro Fagoti Ferraz, Pegoraro, Naiara Bozza, Raskin, Salmo, Mikami, Liya Regina
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Sociedade de Pediatria de São Paulo 2023
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10508040/
https://www.ncbi.nlm.nih.gov/pubmed/37729241
http://dx.doi.org/10.1590/1984-0462/2024/42/2022230

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10508040/
https://www.ncbi.nlm.nih.gov/pubmed/37729241
http://dx.doi.org/10.1590/1984-0462/2024/42/2022230

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