Prenatal diagnosis of nail patella syndrome: A case report [PDF]
Indian Journal of Radiology and Imaging, 2017 The Nail Patella Syndrome (NPS) is an autosomal dominant connective tissue disorder affecting the nails, skeletal system, kidneys and eyes. Here, we report a case of NPS detected at 19 weeks of gestation.
L D Padmanabhan +2 more
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A novel small deletion of LMX1B in a large Chinese family with nail-patella syndrome [PDF]
BMC Medical Genetics, 2019 Background Nail-patella syndrome (NPS) is an autosomal dominant developmental disorder most commonly characterized by dyplasia of nail or patella, the radial head or the humeral head hypoplasia, and, frequently ocular abnormalities and renal disease.
Xiaoyi Yan +6 more
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The first presentation of a case of nail-patella syndrome newly diagnosed at the onset of rheumatoid arthritis: a case report [PDF]
BMC Musculoskeletal Disorders/Summary Background Nail-patella syndrome (NPS) is a rare autosomal dominant disorder that is characterized by dysplasia of the nails, hypoplasia and/or dislocation of the patella and the presence of iliac horns. Using the CARE guidelines, we present the
Kazuya Matsumoto +10 more
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Proteasome inhibition alleviates proteinuria in Lmx1b knock-in mice with dysfunctional LIM domains [PDF]
Nature CommunicationsMutations in the transcription factor LMX1B have been identified as the cause of the autosomal-dominant disease nail-patella syndrome. It manifests in small or absent patellae and dysplastic or missing toe- and fingernails, but the prognosis of the ...
Joshua Hermens +11 more
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Evidence for therapeutic use of cannabidiol for nail-patella syndrome-induced pain in a real-world pilot study [PDF]
Scientific ReportsNail-patella syndrome (NPS) is a rare genetic disease characterized by dysplastic nails, patella abnormalities, skeletal malformation, and chronic pain.
Thibaud Lebret +4 more
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Nail-Patella Syndrome: A Classic Case [PDF]
Dermatology Practical & Conceptual, 2019 Sarita Sanke +3 more
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Do you know this syndrome? Nail patela syndrome: a pathognomonic dermatologic finding [PDF]
Anais Brasileiros de Dermatologia, 2017 : The nail-patella syndrome involves a clinical tetrad of changes in the nails, knees, elbows and the presence of iliac horns. Nail changes are the most constant feature: absent, hypoplastic, or dystrophic.
Bruna Giusto Bunjes +1 more
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Genetic analysis of a pedigree with nail-patella syndrome and literature review [PDF]
Xin yixue, 2023 Objective To analyze the clinical and molecular genetic features in one pedigree with nail-patella syndrome（NPS）， and provide evidence for genetic counseling and reproductive guidance for this family.
Liu Yingwen, Zhang Yuxin, Yan Lulu, Han Chunxiao, Li Haibo
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A Case Report of Nail-Patella Syndrome
罕见病研究, 2023 Nail-patella syndrome (NPS) is a hereditary rare disease that can involve fingernail, patella, elbow, and iliac bones. In this article, we report a case of a girl-9 and 1 quarter years old who had asthmatic contractures in both elbows, thumbnail ...
CHEN Dan +3 more
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A hypoplastic patella fracture in nail patella syndrome: a case report
Journal of Medical Case Reports, 2012 Introduction Nail patella syndrome is a rare autosomal dominant hereditary condition, with an incidence of 22 per million in the United Kingdom. The syndrome’s most common features include iliac horns, hypoplastic patella and nail dysplasia.
Neill Shane C O +2 more
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