A deleterious variant of INTS1 leads to disrupted sleep-wake cycles
A deleterious variant of INTS1 leads to disrupted sleep-wake cycles
About this item
Full title
Author / Creator
Publisher
England: The Company of Biologists Ltd
Journal title
Language
English
Formats
Publication information
Publisher
England: The Company of Biologists Ltd
Subjects
More information
Scope and Contents
Contents
Sleep disturbances are common among children with neurodevelopmental disorders. Here, we report a syndrome characterized by prenatal microcephaly, intellectual disability and severe disruption of sleep-wake cycles in a consanguineous family. Exome sequencing revealed homozygous variants (c.5224G>A and c.6506G>T) leading to the missense mutations E1...
Alternative Titles
Full title
A deleterious variant of INTS1 leads to disrupted sleep-wake cycles
Authors, Artists and Contributors
Identifiers
Primary Identifiers
Record Identifier
TN_cdi_doaj_primary_oai_doaj_org_article_174f901275894aea8a8f1df4fba873a5
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_doaj_primary_oai_doaj_org_article_174f901275894aea8a8f1df4fba873a5
Other Identifiers
ISSN
1754-8403,1754-8411
E-ISSN
1754-8411
DOI
10.1242/dmm.050746
