Multiple copy number variation in a patient with Kleefstra syndrome

• Main Authors: Thomas Nohama Lee (Author), Henrique El Laden Rechetello (Author), João Batista De Arêa Lima Júnior (Author), João Pedro Fagoti Ferraz Cornelio (Author), Naiara Bozza Pegoraro (Author), Salmo Raskin (Author), Liya Regina Mikami (Author)
• Format: Book
• Published: Sociedade de Pediatria de São Paulo, 2023-09-01T00:00:00Z.
• Subjects: article
• Online Access: Connect to this object online.

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 h...