Variable skeletal phenotypes associated with biallelic variants in PRKG2

Pagnamenta, Alistair T.; Diaz-Gonzalez, Francisca; Banos-Pinero, Benito; Ferla, Matteo P.; Toosi, Mehran B.; Calder, Alistair D.; Karimiani, Ehsan G.; Doosti, Mohammad; Wainwright, Andrew; Wordsworth, Paul; Bailey, Kathryn; Ejeskär, Katarina; Lester, Tracy; Maroofian, Reza; Heath, Karen E.; Tajsharghi, Homa; Shears, Deborah; Taylor, Jenny C.

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Variable skeletal phenotypes associated with biallelic variants in PRKG2

Pagnamenta, Alistair T.

NIHR Biomedical Research Centre, Oxford, UK ; Wellcome Centre for Human Genetics, Oxford University, UK.ORCID iD: 0000-0001-7334-0602

Diaz-Gonzalez, Francisca

NGEMM, IdiPAZ and Skeletal Dysplasia Multidisciplinary Unit (UMDE, ERN-BOND), Hospital Universitario La Paz, Madrid, Spain.ORCID iD: 0000-0003-1364-7586

Banos-Pinero, Benito

Oxford Genetics Laboratories, Oxford University Hospitals NHS Foundation Trust, Oxford, UK.

Ferla, Matteo P.

NIHR Biomedical Research Centre, Oxford, UK ; Wellcome Centre for Human Genetics, Oxford University, UK.

Toosi, Mehran B.

Calder, Alistair D.

Karimiani, Ehsan G.

Doosti, Mohammad

Wainwright, Andrew

Wordsworth, Paul

Bailey, Kathryn

Ejeskär, Katarina

Lester, Tracy

Maroofian, Reza

Heath, Karen E.

Tajsharghi, Homa

Shears, Deborah

Taylor, Jenny C.

Show others and affiliations

2022 (English)In: Journal of Medical Genetics, ISSN 0022-2593, E-ISSN 1468-6244, Vol. 59, no 10, p. 947-950Article in journal (Refereed) Published

Place, publisher, year, edition, pages

BMJ Publishing Group Ltd, 2022. Vol. 59, no 10, p. 947-950

Keywords [en]

Genetics (clinical), Genetics

National Category

Medical Genetics and Genomics

Research subject

Translational Medicine TRIM

Identifiers

URN: urn:nbn:se:his:diva-20732DOI: 10.1136/jmedgenet-2021-108027ISI: 000839164900001PubMedID: 34782440Scopus ID: 2-s2.0-85139374485OAI: oai:DiVA.org:his-20732DiVA, id: diva2:1615652

Funder

Wellcome trust, 203141/Z/16/ZEU, FP7, Seventh Framework Programme, 608473

Note

CC BY 4.0

Published Online First: 15 November 2021

Brief communication

The Genomics England Research Consortium

Correspondence to Dr Deborah Shears; debbie.shears@ouh.nhs.uk Dr Jenny C Taylor; jenny@well.ox.ac.uk

Available from: 2021-11-30 Created: 2021-11-30 Last updated: 2025-09-29Bibliographically approved

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Ejeskär, Katarina Tajsharghi, Homa

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