- Nail - Patella Syndrome
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Chun SI, Kim SC, Koh CJ, Lee SN
- KMID: 1678003
- Korean J Dermatol.
- 1980 Apr;18(2):149-153.
The nail-patella syndrome is a genetically determined autosomal dominant disease with variabIe expression affectiag tissues of both ectodermal and mesodermal origin. The condition in an individual is characterized chiefly by... -
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- A Case of Nail-patella Syndrome
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Kim BJ, Yoon HJ, Won CH, Lee JH, Kwon OS
- KMID: 1639693
- Korean J Dermatol.
- 2006 Apr;44(4):492-494.
Nail-patella syndrome (NPS) is a rare autosomal dominant disorder characterized by fingernail dysplasia, hypoplastic or absent patellae, dislocation of the radial head, and bony protuberances of the iliae, also known... -
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- Radiologic Findings of Nail-Patella Syndrome: Case Report
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Park SB, Yoo JS
- KMID: 2209218
- J Korean Radiol Soc.
- 2004 Sep;51(3):341-343.
- doi: 10.3348/jkrs.2004.51.3.341
Nail-patella syndrome is a rare autosomal dominant pleiotropic disorder characterized by dysplasia of the nails, patellar aplasia or hypoplasia, iliac horns, and dysplasia or dislocation of the elbow. We experienced a... -
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- Hereditary onycho-osteodysplasia (nail-patella syndrome)
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Rhee KJ, Lee JK, Ahn SR, Lim SD
- KMID: 1689807
- J Korean Orthop Assoc.
- 1992 Jun;27(3):848-851.
No abstract available. -
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- Two cases of nail patella syndrome
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Koo BS, Kim SJ, Kim PK, Choi IJ, Oh KK, Park HW
- KMID: 1694561
- Korean J Nephrol.
- 1993 Sep;12(3):459-463.
No abstract available. -
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- Case Report of Hereditary Osteo-Onycho Dystrophy (HOOD) (Nail-Patells Syndrome)
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Ha KI, Park SD, Suk SI
- KMID: 2464811
- J Korean Orthop Assoc.
- 1968 Dec;3(4):63-66.
- doi: 10.4055/jkoa.1968.3.4.63
HOOD is a syndrome affecting mainly nails, elbows, pelvis and knees, and inherited as mendelian dominant trait which is probably mediated by a single mutant autosomal gene with variable expressivity.... -
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- A Case of Congenital Glaucoma in Associated with Nail-patella Syndrome
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Lee S, Han JC, Kee CW
- KMID: 2416273
- J Korean Ophthalmol Soc.
- 2018 Jul;59(7):687-690.
- doi: 10.3341/jkos.2018.59.7.687
PURPOSE: To report a case of congenital glaucoma associated with nail-patella syndrome. CASE SUMMARY: A 20-day-old female was referred to our clinic for bilateral intraocular pressure (IOP) elevation and treatment of... -
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- A Case of Nail-Patella Syndrome Who Presented with Characteristic Electron Microscopic Findings
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Han SY, Kang MK, Whang EA, Park SB, Kim HC, Jeon SH, Kang YN, Park KK
- KMID: 1889336
- Korean J Nephrol.
- 2002 Sep;21(5):837-841.
Nail-patella syndrome is a relatively rare autosomal dominant disorder characterized by dysplastic nail, hypoplastic or absent patella, and dislocation of radial head and iliac horns. In addition, renal abnormalities have... -
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- Familial Absence of the Patella: A Report of three Members is a Family
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Kim DH, Yoo KS, Kim KM
- KMID: 2461339
- J Korean Orthop Assoc.
- 1976 Jun;11(2):277-280.
- doi: 10.4055/jkoa.1976.11.2.277
Bilateral absence of the patella as an isolated congenital abnormality is an extremly rare condition. Three members in a family were found to be afflicted with the condition. Clinical examination... -
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- A Synonymous Genetic Alteration of LMX1B in a Family with Nail-Patella Syndrome
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Ham JH, Shin SJ, Joo KR, Park SM, Sung HY, Kim JS, Choi JS, Choi YJ, Song HC, Choi EJ
- KMID: 1717953
- Korean J Intern Med.
- 2009 Sep;24(3):274-278.
- doi: 10.3904/kjim.2009.24.3.274
The gene responsible for nail-patella syndrome, LMX1B, has recently been identified on chromosome 9q. Here we present a patient with nail-patella syndrome and an autosomal dominant pattern of inheritance. A... -
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- Congenital Anonychia with Ectrodactyly of 5th Finger
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Kim KH, Kim CH, Kang SG, Tark MS
- KMID: 2002030
- J Korean Soc Plast Reconstr Surg.
- 2007 May;34(3):406-408.
PURPOSE: Despite a high frequency of acquired nail disease, congenital absence of the nail, also called as anonychia, is a rare anomaly. It may be seen as an isolated of... -
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- Clinico-Genetic Study of Nail-Patella Syndrome
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Lee BH, Cho TJ, Choi HJ, Kang HK, Lim IS, Park YH, Ha IS, Choi Y, Cheong HI
- KMID: 1778145
- J Korean Med Sci.
- 2009 Jan;24(Suppl 1):S82-S86.
- doi: 10.3346/jkms.2009.24.S1.S82
Nail-patella syndrome (NPS) is an autosomal dominant disease that typically involves the nails, knees, elbows and the presence of iliac horns. In addition, some patients develop glomerulopathy or adult-onset glaucoma.... -
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