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- W4385266750 abstract "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 difficulty is a main symptom observed in infancy. However, no adolescent case has been reported. Case presentation: A 14-year-old girl with ASXL3 -related syndrome was referred to our hospital with subacute onset of emotional liability. Limbic encephalitis was ruled out by examination; however, the patient gradually showed a lack of interest in eating, with decreased diet volume. Consequently, she experienced significant weight loss. She experienced no symptoms of bulimia, or food allergy; therefore, avoidant/restrictive food intake disorder (ARFID) was clinically suspected. Conclusions: We reported the first case of ASXL3 -related disorder with adolescent onset of feeding difficulty. ARFID was considered a cause of the feeding difficulty." @default.
- W4385266750 created "2023-07-27" @default.
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- W4385266750 date "2023-07-26" @default.
- W4385266750 modified "2023-10-16" @default.
- W4385266750 title "An adolescent case of ASXL3-related disorder with delayed onset of feeding difficulty" @default.
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- W4385266750 doi "https://doi.org/10.21203/rs.3.rs-3143918/v1" @default.
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