Nail-patella-syndrome in a young patient followed up over 10 years: relevance of the sagittal trochlear septum for patellofemoral pathology

Introduction: Nail-patella-syndrome (NPS) is a rare autosomal-dominant inherited disease with pathologies of nails, skeleton, kidneys, and eyes. Linkage to a mutated gene was found. It codes for the transcription-factor LMX1B. In most cases knees are symptomatic. Patients have hypoplastic patellae,...

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Wedi'i Gadw mewn:
Manylion Llyfryddiaeth
Cyhoeddwyd yn:SICOT J
Prif Awduron: Konrads, Christian, Reppenhagen, Stephan, Plumhoff, Piet, Rudert, Maximilian, Steinert, Andre, Barthel, Thomas
Fformat: Artigo
Iaith:Inglês
Cyhoeddwyd: EDP Sciences 2016
Pynciau:
Case Report
Mynediad Ar-lein:https://ncbi.nlm.nih.gov/pmc/articles/PMC4887663/
https://ncbi.nlm.nih.gov/pubmed/27247258
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1051/sicotj/2016017
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