Zobrazeno 1 - 1
of 1
pro vyhledávání: '"Henrique El Laden Rechetello"'
Autor:
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
Publikováno v:
Revista Paulista de Pediatria, Vol 42 (2023)
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, i
Externí odkaz:
https://doaj.org/article/bc51b3b8149745cea0f53639468c9976
