Multiple copy number variation in a patient with Kleefstra syndrome

Multiple copy number variation in a patient with Kleefstra syndrome

ABSTRACT 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...

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Bibliographic Details
Main Authors: Thomas Nohama Lee, Henrique El Laden Rechetello, João Batista De Arêa Lima Júnior, João Pedro Fagoti Ferraz Cornelio, Naiara Bozza Pegoraro, Salmo Raskin, Liya Regina Mikami
Format: Article
Language:English
Published: Sociedade de Pediatria de São Paulo 2023-09-01
Series:Revista Paulista de Pediatria
Subjects:
Neurodevelopmental disorders
Genetics
Genes
Online Access:http://www.scielo.br/scielo.php?script=sci_arttext&pid=S0103-05822024000100603&tlng=en

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