PAPSS2‐related Brachyolmia: Clinical and Radiological Phenotype in 18 New Cases
Lucy Bownass,Stephen Abbs,Ruth Armstrong,Genevieve Baujat,Gry Behzadi,Ragnhild Drage Berentsen,Christine Burren,Alistair Calder,Valerie Cormier-Daire,Ruth Newbury-Ecob,Nicola Foulds,Petur B. Juliusson,Sarina G. Kant,Henrietta Lefroy,Sarju G. Mehta,Else Merckoll,Caroline Michot,Fergal Monsell,Amaka C. Offiah,Allan Richards,Karen Rosendahl,Cecilie F. Rustad,Deborah Shears,Kristian Tveten,Diana Wellesley,Paul Wordsworth,Sarah Snnithson American Journal of Medical Genetics Part A（2019）
Key words
brachyolmia,PAPSS2,platyspondyly
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