Comprehensive screening shows that mutations in the known syndromic genes are rare in infants presenting with hyperinsulinaemic hypoglycaemia.

2.50
Hdl Handle:
http://hdl.handle.net/11287/620864
Title:
Comprehensive screening shows that mutations in the known syndromic genes are rare in infants presenting with hyperinsulinaemic hypoglycaemia.
Authors:
Laver, T. W.; Wakeling, M. N.; Hua, J. H.Y.; Houghton, Jayne A. L.; Hussain, K.; Ellard, Sian ( 0000-0002-7620-5526 ) ; Flanagan, S. E.
Abstract:
Hyperinsulinaemic hypoglycaemia (HH) can occur in isolation or more rarely feature as part of a syndrome. Screening for mutations in the "syndromic" HH genes is guided by phenotype with genetic testing used to confirm the clinical diagnosis. As HH can be the presenting feature of a syndrome, it is possible that mutations will be missed as these genes are not routinely screened in all newly diagnosed individuals. We investigated the frequency of pathogenic variants in syndromic genes in infants with HH who had not been clinically diagnosed with a syndromic disorder at referral for genetic testing.
Citation:
Comprehensive screening shows that mutations in the known syndromic genes are rare in infants presenting with hyperinsulinaemic hypoglycaemia. 2018 Clin. Endocrinol. (Oxf)
Publisher:
Wiley
Journal:
Clinical endocrinology
Issue Date:
23-Aug-2018
URI:
http://hdl.handle.net/11287/620864
DOI:
10.1111/cen.13841
PubMed ID:
30238501
Additional Links:
https://doi.org/10.1111/cen.13841
Type:
Journal Article
Language:
en
ISSN:
1365-2265
Appears in Collections:
Molecular Genetics; 2018 RD&E publications

Full metadata record

DC FieldValue Language
dc.contributor.authorLaver, T. W.en
dc.contributor.authorWakeling, M. N.en
dc.contributor.authorHua, J. H.Y.en
dc.contributor.authorHoughton, Jayne A. L.en
dc.contributor.authorHussain, K.en
dc.contributor.authorEllard, Sianen
dc.contributor.authorFlanagan, S. E.en
dc.date.accessioned2018-10-04T13:49:15Z-
dc.date.available2018-10-04T13:49:15Z-
dc.date.issued2018-08-23-
dc.identifier.citationComprehensive screening shows that mutations in the known syndromic genes are rare in infants presenting with hyperinsulinaemic hypoglycaemia. 2018 Clin. Endocrinol. (Oxf)en
dc.identifier.issn1365-2265-
dc.identifier.pmid30238501-
dc.identifier.doi10.1111/cen.13841-
dc.identifier.urihttp://hdl.handle.net/11287/620864-
dc.description.abstractHyperinsulinaemic hypoglycaemia (HH) can occur in isolation or more rarely feature as part of a syndrome. Screening for mutations in the "syndromic" HH genes is guided by phenotype with genetic testing used to confirm the clinical diagnosis. As HH can be the presenting feature of a syndrome, it is possible that mutations will be missed as these genes are not routinely screened in all newly diagnosed individuals. We investigated the frequency of pathogenic variants in syndromic genes in infants with HH who had not been clinically diagnosed with a syndromic disorder at referral for genetic testing.en
dc.language.isoenen
dc.publisherWileyen
dc.relation.urlhttps://doi.org/10.1111/cen.13841en
dc.rightsArchived with thanks to Clinical endocrinologyen
dc.subjectWessex Classification Subject Headings::Oncology. Pathology.::Geneticsen
dc.titleComprehensive screening shows that mutations in the known syndromic genes are rare in infants presenting with hyperinsulinaemic hypoglycaemia.en
dc.typeJournal Articleen
dc.identifier.journalClinical endocrinologyen
dc.type.versionIn press (epub ahead of print)en

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