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A novel variation in the LMX1B gene with nail-patella syndrome.
Pathology, Research and PracticeNail-patella syndrome (NPS; OMIM #161200) is an autosomal dominant disorder characterized by developmental defects in dorsal limb structures, kidneys, and eyes. The incidence of NPS is attributed to variations in the LMX1B gene.
Lu Zhang +8 more
semanticscholar +1 more source
BMJ Case Reports
Nail–patella syndrome is a genetic disease with different phenotypes often affecting nails and knees. We present a woman with nail–patella syndrome with instability and dysfunction of the distal radioulnar joint.
Marie Mølmer +3 more
semanticscholar +1 more source
Nail–patella syndrome is a genetic disease with different phenotypes often affecting nails and knees. We present a woman with nail–patella syndrome with instability and dysfunction of the distal radioulnar joint.
Marie Mølmer +3 more
semanticscholar +1 more source
A novel LMX1B mutation: nail‐patella syndrome manifesting with isolated nail disorders
International Journal of Dermatology, 2022References 1 Searle T, Al-Niaimi F, Ali FR. Google searches in patient selfcare increase during the COVID-19 lockdown. J Am Acad Dermatol 2020; 83: e349. https://doi.org/10.1016/j.jaad.2020.06.
C. Miao, X. Xiang
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Asian Journal of Pediatric Nephrology
Mutations in LIM homeobox transcription factor 1 beta (LMX1B) are associated with autosomal dominant steroid-resistant nephrotic syndrome. The age of presentation and clinical manifestations are quite heterogeneous and a significant proportion of ...
R. Rahman, T. Sankar, Divya Pachat
semanticscholar +1 more source
Mutations in LIM homeobox transcription factor 1 beta (LMX1B) are associated with autosomal dominant steroid-resistant nephrotic syndrome. The age of presentation and clinical manifestations are quite heterogeneous and a significant proportion of ...
R. Rahman, T. Sankar, Divya Pachat
semanticscholar +1 more source
International Research Journal of Multidisciplinary Scope
This case report delves into the intricate anesthetic management of a 17-year-old male presenting Nail Patella Syndrome (NPS) and end-stage renal failure necessitating emergency open appendectomy.
Bharat Krishna M +3 more
semanticscholar +1 more source
This case report delves into the intricate anesthetic management of a 17-year-old male presenting Nail Patella Syndrome (NPS) and end-stage renal failure necessitating emergency open appendectomy.
Bharat Krishna M +3 more
semanticscholar +1 more source
Indian Journal Of Applied Research
Nail Patella Syndrome (NPS), a rare autosomal dominant genetic disorder occurring in approximately 1 in 50,000 live births, underscores the importance of early identication and intervention in outpatient settings due to its potential systemic ...
Arvind Radhakrishnan +2 more
semanticscholar +1 more source
Nail Patella Syndrome (NPS), a rare autosomal dominant genetic disorder occurring in approximately 1 in 50,000 live births, underscores the importance of early identication and intervention in outpatient settings due to its potential systemic ...
Arvind Radhakrishnan +2 more
semanticscholar +1 more source
Clinical nephrology, 1980
Three cases with collagenation of glomerular basement membrane are presented. The ages of the patients are 8, 13, and 27 years. An 8-year-old boy presented with nephrotic syndrome; a 13-year-old girl presented with recurrent urinary tract infections, proteinuria, and edema; and a 27-year-old woman was noted during the evaluation of a cardiac murmur to ...
S G, Sabnis +5 more
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Three cases with collagenation of glomerular basement membrane are presented. The ages of the patients are 8, 13, and 27 years. An 8-year-old boy presented with nephrotic syndrome; a 13-year-old girl presented with recurrent urinary tract infections, proteinuria, and edema; and a 27-year-old woman was noted during the evaluation of a cardiac murmur to ...
S G, Sabnis +5 more
openaire +1 more source
Nephrology
Nail‐patella syndrome (NPS) is an autosomal dominant genetic condition characterised by dysplastic nails, skeletal deformities and potential kidney involvement. It is caused by mutations in the LMX1B gene.
Shalini Sinha +4 more
semanticscholar +1 more source
Nail‐patella syndrome (NPS) is an autosomal dominant genetic condition characterised by dysplastic nails, skeletal deformities and potential kidney involvement. It is caused by mutations in the LMX1B gene.
Shalini Sinha +4 more
semanticscholar +1 more source
Der Hautarzt; Zeitschrift fur Dermatologie, Venerologie, und verwandte Gebiete, 1997
The nail-patella syndrome is an autosomal dominant trait characterized by abnormalities of the nails, patella and radial head, iliac crest and, in some cases, nephropathy. The genetic defect is localized on chromosome 9q34.1. The clinical features in affected individuals vary greatly.
T, Wildfeuer, G, Albrecht
openaire +3 more sources
The nail-patella syndrome is an autosomal dominant trait characterized by abnormalities of the nails, patella and radial head, iliac crest and, in some cases, nephropathy. The genetic defect is localized on chromosome 9q34.1. The clinical features in affected individuals vary greatly.
T, Wildfeuer, G, Albrecht
openaire +3 more sources