Article

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

2023-07-26

Abstract excerpt

<title>Abstract</title> <p><bold>Background: </bold><italic>ASXL3</italic>-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 <italic>ASXL3</italic>. The most characteristic feature is neurodevelopmental delay with consistently limited speech. Feeding difficulty is a main symptom observed in infancy....

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Literature Corpus work: d68b4a07-10d1-597b-9e94-3b88d8a9b169
DOI: 10.21203/rs.3.rs-3143918/v1

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