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

• Main Authors: Yuto Arai (Author), Tohru Okanishi (Author), Tetsuya Okazaki (Author), Hiroyuki Awano (Author), Rie Seyama (Author), Yuri Uchiyama (Author), Naomichi Matsumoto (Author), Akiko Tamasaki (Author), Yoshihiro Maegaki (Author)
• Format: Book
• Published: BMC, 2024-05-01T00:00:00Z.
• Subjects: article
• Online Access: 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...