Results 51 to 60 of about 11,502 (212)

Paroxysmal Cranial Dyskinesia and Nail-Patella Syndrome Caused by a Novel Variant in the LMX1B Gene. [PDF]

Mov Disord, 2020
Bech S, Løkkegaard A, Nielsen TT, Nørremølle A, Grønborg S, Hasholt L, Steffensen GK, Graehn G, Olesen JH, Tommerup N, Mang Y, Bak M, Nielsen JE, Eiberg H, Hjermind LE.   +14 more
europepmc   +3 more sources

Nail-Patella Syndrome: A Classic Case [PDF]

Dermatology Practical & Conceptual, 2019
Sarita Sanke, Taru Garg, Rubina Jassi, Apoorva Maheshwari   +3 more
doaj   +2 more sources

Dilated Cardiomyopathy and Nail-Patella Syndrome: A Case Report. [PDF]

Cureus, 2023
Nail-patella syndrome (NPS) is a rare genetic disorder with multiple skeletal deformities and a variety of extra-skeletal involvements. We present a 17-year-old male with a clinical tetrad of skeletal abnormalities, multiple bony deformities, advanced ...
Khadka N, Kc P, Sharma S, Sharma S, Rayamajhi S.   +4 more
europepmc   +2 more sources

Inflammatory back pain associated with nail-patella syndrome: A case report. [PDF]

Medicine (Baltimore)
Rationale: Nail-patella syndrome (NPS), a rare genetic disorder with multisystemic implications that affects the kidneys, joints, bones, and nails, exhibits significant phenotypic heterogeneity, leading to diverse clinical presentations and prompting ...
Chen W, Lu TX, Liu Y.
europepmc   +2 more sources

Nail Patella Syndrome Revisited: 50 Years After Linkage [PDF]

Annals of Human Genetics, 2005
I McIntosh, E Sweeney
exaly   +2 more sources

Nail-patella syndrome

, 2015
Laurence Heidet, Marie Claire Gubler
  +4 more sources

Management of a Meniscus Tear in a Patient With Nail-Patella Syndrome: A Case Report. [PDF]

Cureus
Nail-patella syndrome is a rare genetic condition that affects multiple organ systems and can lead to small or irregularly shaped patellae. Such irregular patellae can be of particular interest to orthopaedic practice because the small size can commonly ...
Grossi J, Garber L, Olexa M, Zanganeh K, Picerno Ii RA.   +4 more
europepmc   +2 more sources

Identification of a novel missense variant in the <i>LMX1B</i> gene associated with nail-patella syndrome in a Chinese family. [PDF]

Front Genet
Background Nail-patella syndrome (NPS) is an autosomal dominant disorder caused by the variants of the LMX1B gene, affecting several systems, including musculoskeletal, renal, and ocular systems.
Sun Q, Ren Y, Cao Y, Zheng W, Su G, Wang X, Wang H.   +6 more
europepmc   +2 more sources

Nail patella syndrome

, 2012
Ian Bickle
openaire   +2 more sources

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, Marcelle da Costa Frickmann Fernandes   +1 more
doaj   +1 more source