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...
Main Authors: | , , , , , , |
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Format: | Article |
Language: | English |
Published: |
Sociedade de Pediatria de São Paulo
2023-09-01
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Series: | Revista Paulista de Pediatria |
Subjects: | |
Online Access: | http://www.scielo.br/scielo.php?script=sci_arttext&pid=S0103-05822024000100603&tlng=en |