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Variable skeletal phenotypes associated with biallelic variants in PRKG2
Alistair T Pagnamenta, Francisca Diaz-Gonzalez, Benito Banos-Pinero, Matteo P Ferla, Mehran B Toosi, Alistair D Calder, Ehsan G Karimiani, Mohammad Doosti, Andrew Wainwright, Paul Wordsworth, Kathryn Bailey, Katarina Ejeskär, Tracy Lester, Reza Maroofian, Karen E Heath, Homa Tajsharghi, Deborah Shears, Jenny C Taylor

Journal of Medical Genetics Oct 2022, 59 (10) 947-950; DOI: 10.1136/jmedgenet-2021-108027
ARF1 haploinsufficiency causes periventricular nodular heterotopia with variable clinical expressivity
Simone Gana, Antonella Casella, Sara Cociglio, Elena Tartara, Elisa Rognone, Elisa Giorgio, Anna Pichiecchio, Simona Orcesi, Enza Maria Valente

Journal of Medical Genetics Aug 2022, 59 (8) 781-784; DOI: 10.1136/jmedgenet-2021-107783

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