Variable skeletal phenotypes associated with biallelic variants in PRKG2

Pagnamenta, Alistair T. (author)

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

Diaz-Gonzalez, Francisca (author)

NGEMM, IdiPAZ and Skeletal Dysplasia Multidisciplinary Unit (UMDE, ERN-BOND), Hospital Universitario La Paz, Madrid, Spain

Banos-Pinero, Benito (author)

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

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Ferla, Matteo P. (author)

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

Toosi, Mehran B. (author)

Department of Pediatric Neurology, Ghaem Hospital, Mashhad University of Medical Sciences, Iran

Calder, Alistair D. (author)

Radiology Department, Great Ormond Street Hospital for Children NHS Foundation Trust, London, UK

Karimiani, Ehsan G. (author)

Genetics Research Centre, Molecular and Clinical Sciences Institute, St. George’s, University of London, UK ; Next Generation Genetic Polyclinic, Razavi International Hospital, Mashhad, Iran

Doosti, Mohammad (author)

Next Generation Genetic Polyclinic, Razavi International Hospital, Mashhad, Iran

Wainwright, Andrew (author)

Department of Paediatrics, Oxford University Hospitals NHS Foundation Trust, Oxford, UK

Wordsworth, Paul (author)

NIHR Biomedical Research Centre, Oxford, UK ; Wellcome Centre for Human Genetics, Oxford University, UK ; Department of Paediatrics, Oxford University Hospitals NHS Foundation Trust, Oxford, UK

Bailey, Kathryn (author)

Department of Paediatrics, Oxford University Hospitals NHS Foundation Trust, Oxford, UK

Ejeskär, Katarina, 1969- (author)

Högskolan i Skövde,Institutionen för hälsovetenskaper,Forskningsmiljön hälsa, hållbarhet och digitalisering,Translationell medicin (TRIM), Translational Medicine

Lester, Tracy (author)

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

Maroofian, Reza (author)

Department of Neuromuscular Disorders, Queen Square Institute of Neurology, UCL, London, UK

Heath, Karen E. (author)

INGEMM, IdiPAZ and Skeletal Dysplasia Multidisciplinary Unit (UMDE, ERN-BOND), Hospital Universitario La Paz, Madrid, Spain ; CIBERER, ISCIII, Madrid, Spain

Tajsharghi, Homa (author)

Högskolan i Skövde,Institutionen för hälsovetenskaper,Forskningsmiljön hälsa, hållbarhet och digitalisering,Translationell medicin (TRIM), Translational Medicine

Shears, Deborah (author)

Oxford Centre for Genomic Medicine, Oxford University Hospitals NHS Foundation Trust, Oxford, UK

Taylor, Jenny C. (author)

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

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 (creator_code:org_t)

2021-11-15

2022

English.

In: Journal of Medical Genetics. - : BMJ Publishing Group Ltd. - 0022-2593 .- 1468-6244. ; 59:10, s. 947-950

Related links:

https://doi.org/10.1...

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https://his.diva-por... (primary) (Raw object)

https://jmg.bmj.com/...

https://urn.kb.se/re...

https://doi.org/10.1...

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• Journal article (peer-reviewed)