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A biallelic loss-of-function PDIA6 variant in a second patient with polycystic kidney disease, infancy-onset diabetes, and microcephaly

dc.contributor.authorDe Franco, E
dc.contributor.authorWakeling, MN
dc.contributor.authorFrew, RD
dc.contributor.authorRuss-Silsby, J
dc.contributor.authorPeters, C
dc.contributor.authorMarks, S
dc.contributor.authorHattersley, AT
dc.contributor.authorFlanagan, SE
dc.date.accessioned2022-07-22T08:57:41Z
dc.date.issued2022-07-18
dc.date.updated2022-07-21T10:35:38Z
dc.description.abstractWe report a second patient with intrauterine growth retardation, congenital polycystic kidney disease, infancy-onset diabetes, microcephaly, and liver fibrosis caused by a homozygous PDIA6 loss-of-function variant. Our study further defines the genetic and clinical features of this rare syndromic form of infancy-onset diabetes.
dc.description.sponsorshipDiabetes UKen_GB
dc.description.sponsorshipWellcome Trusten_GB
dc.identifier.citationPublished online 18 July 2022en_GB
dc.identifier.doi10.1111/cge.14187
dc.identifier.grantnumber19/0005971en_GB
dc.identifier.grantnumber223187/Z/21/Z (also UNS121001)en_GB
dc.identifier.urihttp://hdl.handle.net/10871/130336
dc.identifierORCID: 0000-0002-1437-7891 (De Franco, Elisa)
dc.language.isoenen_GB
dc.publisherWileyen_GB
dc.rights© 2022 The Authors. Clinical Genetics published by John Wiley & Sons Ltd. This is an open access article under the terms of the Creative Commons Attribution License, which permits use, distribution and reproduction in any medium, provided the original work is properly cited.
dc.subjectPDIA6en_GB
dc.subjectinfancy-onset diabetesen_GB
dc.subjectmicrocephalyen_GB
dc.subjectpolycystic kidney diseaseen_GB
dc.subjectwhole genome sequencingen_GB
dc.subjecttranscripten_GB
dc.titleA biallelic loss-of-function PDIA6 variant in a second patient with polycystic kidney disease, infancy-onset diabetes, and microcephalyen_GB
dc.typeArticleen_GB
dc.date.available2022-07-22T08:57:41Z
dc.identifier.issn0009-9163
dc.descriptionThis is the final version. Available on open access from Wiley via the DOI in this recorden_GB
dc.descriptionData Availability Statement: Data available from the corresponding author upon reasonable request.en_GB
dc.identifier.eissn1399-0004
dc.identifier.journalClinical Geneticsen_GB
dc.rights.urihttps://creativecommons.org/licenses/by/4.0/en_GB
dcterms.dateAccepted2022-07-04
rioxxterms.versionVoRen_GB
rioxxterms.licenseref.startdate2022-07-04
rioxxterms.typeJournal Article/Reviewen_GB
refterms.dateFCD2022-07-21T10:35:41Z
refterms.versionFCDAM
refterms.dateFOA2022-08-03T13:07:07Z
refterms.panelAen_GB


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© 2022 The Authors. Clinical Genetics published by John Wiley & Sons Ltd. This is an open access article under the terms of the Creative Commons Attribution License, which permits use, distribution and reproduction in any medium, provided the original work is properly cited.
Except where otherwise noted, this item's licence is described as © 2022 The Authors. Clinical Genetics published by John Wiley & Sons Ltd. This is an open access article under the terms of the Creative Commons Attribution License, which permits use, distribution and reproduction in any medium, provided the original work is properly cited.