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Nail patella syndrome

Nail-Patella Syndrome
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Review Articles from PubMed

Review articles summarize what is currently known about a disease. They discuss research previously published by others. The terms "Nail patella syndrome" returned 3 free, full-text review articles. First few results:
Nail-patella syndrome.
Last Updated: Nov 13, 2018

The pathognomonic symptoms of patients with nail-patella syndrome are their small or absent patellae and dysplastic or absent finger- and toenails. Many of the patients suffer from renal symptoms which also affect their prognosis. In 1998, mutations in the gene encoding the transcription ...

Correction of malformative patellar instability in patients with nail-patella syndrome: a case report and review of the literature.
Last Updated: Nov 25, 2016

Nail-patella syndrome (NPS) or hereditary onycho-osteodysplasia is a relatively rare autosomal dominant disorder with the classic tetrad of fingernail abnormalities, hypoplastic patellae, radial head dislocation and iliac horns. The anatomic abnormalities in NPS often lead to subluxation ...

Manifold functions of the Nail-Patella Syndrome gene Lmx1b in vertebrate development.
Last Updated: Mar 20, 2018

The LIM (Lin-1, Isl-1 and Mec-3)-homeodomain transcription factor 1 beta (Lmx1b) is widely expressed in vertebrate embryos, and is implicated in the development of diverse structures such as limbs, kidneys, eyes and brains. LMX1B mutations in humans cause an autosomal dominant inherited ...

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3 Free Review Articles 13 Review Articles

Editorials from PubMed

Editorial articles describe the outcome of a single study. They are the published results of original research. The terms "Nail patella syndrome" returned 1 free, full-text editorial articles. First 1 results:
How are podocytes affected in nail-patella syndrome?
Last Updated: Nov 13, 2018

Nail-patella syndrome is an autosomal-dominant hereditary disease named for dysplastic fingernails and toenails and hypoplastic or absent kneecaps evident in patients with the syndrome. Prognosis is determined by the nephropathy that develops in many such patients. Besides podocyte ...

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1 Free Editorials

Research Articles from PubMed

Research articles describe the outcome of a single study. They are the published results of original research. The terms "Nail patella syndrome" returned 49 free, full-text research articles. First few results:
Nail-patella syndrome.
Last Updated: Dec 11, 2018

Short stature and hypothyroidism in a child with Nail-Patella Syndrome. A case report.
Last Updated: Jul 16, 2018

Nail-Patella syndrome (NPS) (OMIM: 161200) or hereditary onycho-osteodysplasia is an autosomal dominant disorder characterized by skeletal anomalies, nail dysplasia, renal and ocular abnor malities. The diagnosis is based on clinical and radiological findings and confirmed by the ...

Nail-patella syndrome: clinical clues for making the diagnosis.
Last Updated: Sep 24, 2018

Nail-patella syndrome (NPS) is a rare autosomal-dominant disorder characterized by the classic triad of fingernail dysplasia, patellar absence/hypoplasia, and presence of iliac horns. We describe the various features of NPS, focusing on dermatologic and musculoskeletal findings. A ...

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49 Free Research Articles 161 Research Articles