An adolescent case of ASXL3-related disorder with delayed onset of feeding difficulty

• Autores principales: Yuto Arai (Autor), Tohru Okanishi (Autor), Tetsuya Okazaki (Autor), Hiroyuki Awano (Autor), Rie Seyama (Autor), Yuri Uchiyama (Autor), Naomichi Matsumoto (Autor), Akiko Tamasaki (Autor), Yoshihiro Maegaki (Autor)
• Formato: Libro
• Publicado: BMC, 2024-05-01T00:00:00Z.
• Materias: article
• Acceso en línea: Connect to this object online.

Abstract Background ASXL3-related disorder, first described in 2013, is a genetic disorder with an autosomal dominant inheritance that is caused by a heterozygous loss-of-function variant in ASXL3. The most characteristic feature is neurodevelopmental delay with consistently limited speech. Feeding...