Results 101 to 110 of about 1,289,318 (184)
Nail-patella syndrome with nephrotic syndrome and deafness: a case report
, 2018 Nail patella syndrome (NPS) is a rare hereditary disorder, characterized by typical dermatological and musculoskeletal abnormalities. It is an autosomal dominant condition resulting from the mutation of LMX1b gene at chromosome 9q34.
Siti Nor Hidayah Binti Kamarulzaman
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Abstracts From PVRI 2026 Dublin
Pulmonary Circulation, Volume 16, Issue 2, April 2026.
wiley +1 more source
El síndrome de nail-patella: presentación de 5 casos [PDF]
, 2005 Five cases of nail-patella syndrome of 2 different families are presented. In all of them there were evident the clinical features typical of the disease.
Ortega Arruti, J.A. +4 more
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Fingertip dermatitis refractory to topical corticosteroids associated with nail-patella syndrome
, 2008 A 14-year-old girl and her 47-year-old father presented with fingernails that were hypoplastic, spoon-shaped and ridged since birth. Fingertip dermatitis and paronychia were also observed in the daughter, which had been present since birth and had ...
Opie, Jacinta +5 more
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Clinical Images: Characteristic nail and skeletal findings in nail–patella syndrome [PDF]
Jina Yeo, Tae Ran Ahn
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CASE REPORT OF NAIL-PATELLA SYNDROME
, 2020 Nail-patela sindrom (Fongova bolest, nasljedna osteoonihodiplazija) rijetki je genetski poremećaj koji je karakterističan po promjenama na noktima, koljenima, laktovima i pojavi ilijačnih rogova(1).
Štefančić, Karla
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Tips to Diagnose Uncommon Nail Disorders
, 2015 This article reviews 6 nail disorders that, although easy to diagnose, are misdiagnosed frequently by dermatologists and general practitioners. Diagnostic clues are emphasized to familiarize readers with features that indicate the correct diagnosis.
Schneider, Samantha L +1 more
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A patient-derived LMX1B variant causes tissue-specific manifestations of nail-patella syndrome in mice [PDF]
Takanori Amano +11 more
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Total Knee Arthroplasty for Osteoarthritis in a Patient with Nail Patella Syndrome - A Case Report. [PDF]
Int Med Case Rep J, 2021 Serrano AF, Serrano PM.
europepmc +1 more source