An adolescent case of ASXL3-related disorder with delayed onset of feeding difficulty
An adolescent case of ASXL3-related disorder with delayed onset of feeding difficulty
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Publisher
England: BioMed Central Ltd
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Language
English
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England: BioMed Central Ltd
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Contents
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 adolesce...
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Full title
An adolescent case of ASXL3-related disorder with delayed onset of feeding difficulty
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TN_cdi_doaj_primary_oai_doaj_org_article_45c5bcd2546541d69e4ec04f4f1f344a
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https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_doaj_primary_oai_doaj_org_article_45c5bcd2546541d69e4ec04f4f1f344a
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ISSN
1471-2431
E-ISSN
1471-2431
DOI
10.1186/s12887-024-04774-3
