Spondyloenchondrodysplasia due to mutations in ACP5: A comprehensive survey.

Tracy A. Briggs,Gillian I. Rice,Navid Adib,Lesley C. Adès,Stéphane Barete,Kannan Baskar,Véronique Baudouin,Ayşe Nurcan Cebeci,Philippe Clapuyt,David Coman,Lien De Somer,Yael Finezilber,Moshe Frydman,Ayla Güven,Sébastien Héritier,Daniela Karall,M. L. Kulkarni,Pierre Lebon,David Levitt,Martine Le Merrer,Agnès Linglart,John H. Livingston,Vincent Navarro,Ericka Okenfuss,Anne Puel,Nicole Revencu,Sabine Scholl-Bürgi,Marina Vivarelli,Carine Wouters,Brigitte Bader-Meunier,Yanick J. Crow

Spondyloenchondrodysplasia due to mutations in ACP5: A comprehensive survey.

2016

Purpose Spondyloenchondrodysplasia is a rare immuno-osseous dysplasia caused by biallelic mutations in ACP5. We aimed to provide a survey of the skeletal, neurological and immune manifestations of this disease in a cohort of molecularly confirmed cases.

Keywords:

Immunology
Disease
Dysplasia
Genotype
Biology
Allele
Mutation
Cohort
Autoantibody
Medical microbiology

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