- A Case Report of Hidrotic Ectodermal Dusplasia
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Kim CY, Chang CY
- KMID: 2231804
- Korean J Dermatol.
- 1975 Sep;13(3):217-221.
Ectodermal dysplasia tends to fall into two groups, the hidrotic and anhidrotic fo rms. Each type has a seperate geneologic origin and distinct clinical manifestation. The hidrotic form usually results... -
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- A Case of Darier's Disease
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Park SO, Hahm JH, Kook HI
- KMID: 2231806
- Korean J Dermatol.
- 1975 Sep;13(3):231-235.
Darier's diseaae is relatively rare dyskeratotic and inheritable dermatoses of an. autosomal irregular dominant gene. The authors observed one case of typical Dariers disease with the family hietory of three... -
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- Tubular Aggregate Myopathy: A Case Report
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Suh YL, Kim NR
- KMID: 1099811
- J Korean Med Sci.
- 2003 Feb;18(1):135-140.
- doi: 10.3346/jkms.2003.18.1.135
We report a first Korean case of presumably dominantly inherited primary tubular aggregate myopathy in a 19-yr-old man, who presented with slowly progressive proximal muscle stiffness and weakness. In hematoxylin... -
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- Autosomal Dominant Centronuclear Myopathy with Unique Clinical Presentations
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Lee JY, Min JH, Hong YH, Sung JJ, Park SH, Park SH, Lee KW, Park KS
- KMID: 1785779
- J Korean Med Sci.
- 2007 Dec;22(6):1098-1101.
- doi: 10.3346/jkms.2007.22.6.1098
Centronuclear myopathies are clinically and genetically heterogenous diseases with common histological findings, namely, centrally located nuclei in muscle fibers with a predominance and hypotrophy of type 1 fibers. We describe... -
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- Multiple Neurofibromatosis Manifesting Autosomal Dominant Ingeritance in a Single Family
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Kim YP, Hwang IK
- KMID: 1664656
- Korean J Dermatol.
- 1976 Sep;14(3):239-245.
Multiple neurofibromatosis is known to be a genetic disease with the autosomal dominant inheritance pattern. In clinical practice, however, we can hardly ever find a case in which the autosomal... -
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- Dyschromatosis Symmetrica Hereditaria Affecting in two Families
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Kim NI, Park SY, Youn JI, Lim SD
- KMID: 1678132
- Korean J Dermatol.
- 1980 Dec;18(6):585-591.
Dyschromatosis symmetrica hereditaria is one of the pigmentary disorders of the skin which has been reported mainly from Japan. It appeara to be determined by an autosomal dominant gene. Clinical... -
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- Autosomal Dominant Type I Osteopetrosis Is Related with Iatrogenic Fractures in Arthroplasty
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van Hove R, de Jong T, Nolte PA
- KMID: 1794740
- Clin Orthop Surg.
- 2014 Dec;6(4):484-488.
- doi: 10.4055/cios.2014.6.4.484
Autosomal dominant osteopetrosis (ADO) is a sclerotic bone disorder due to failure of osteoclasts. ADO poses difficulties during arthroplasty because of the increased chance for iatrogenic fractures due to sclerotic... -
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- A Case of Reticulate Acropigmentation of Kitamura
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Lee KH, Chang KH, Chun SI, Koh CJ
- KMID: 1678705
- Korean J Dermatol.
- 1983 Jun;21(3):321-325.
Reticulate acropigmentation of Kitamura, described first by Kitamura and Akam atsu in 1943, is a pigmentary disorder that may be determined by an autasomal dominant gene. Skin lesions are characterized... -
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- A Case Report of Familial Benign Hypocalciuric Hypercalcemia: A Mutation in the Calcium-Sensing Receptor Gene
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Woo SI, Song H, Song KE, Kim DJ, Lee KW, Kim SJ, Chung YS
- KMID: 1110751
- Yonsei Med J.
- 2006 Apr;47(2):255-258.
- doi: 10.3349/ymj.2006.47.2.255
Familial benign hypocalciuric hypercalcemia (FBHH) is an autosomal dominant trait with high penetrance, clinically manifestating a relatively benign, lifelong, persistent hypercalcemia and hypocalciuria without hypercalcemic related complications. The calcium-sensing receptor... -
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- A Case of Hidrotic Ectodermal Dysplasia
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Cho SH, Kim JT
- KMID: 1677899
- Korean J Dermatol.
- 1979 Aug;17(4):253-257.
Congenital ectodermal dysplasia are a group of familial disorders that affect tissues and organs of ectodermal origin to varying degrees. It devided hidrotic type and anhidrotic type by geneologic origin... -
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- A case of congenital hypertrophic pyloric stenosis in two siblings
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Jang YM, Park MR, Byun SY, Kim JY, Jeon IS, Kim KJ
- KMID: 2335075
- J Korean Pediatr Soc.
- 1993 Jul;36(7):1025-1029.
Congenital hypertrophic pyloric stenosis is the most common intra-abdominal disease required surgery during the first few months of life. The expression of pyloric stenosis is dependent upon the genetic influence... -
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- A Case of Hamartomatous Polyp without Peutz-Jeghers Syndrome Arising from Appendix
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Sohn WS, Park JS, Kim JE, Kim BH, Yoo SH, Han EM
- KMID: 2243108
- Korean J Gastrointest Endosc.
- 2010 Jul;41(1):36-40.
Peutz-Jeghers syndrome is a familial syndrome consisting of mucocutaneous pigmentation and gastrointestinal polyposis and appears to be inherited as a single pleiotropic autosomal dominant gene with variable and incomplete penetrance.... -
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- A Cabe of Clozapine-Induced Agranulocytosis
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Lee GC, Jung HK, Lee JH, Choi YM, Jeon SI, Choi SJ
- KMID: 2017707
- J Korean Neuropsychiatr Assoc.
- 1998 Jan;37(1):186-193.
We report a 20-year-old female patient who developed clozapine-induced agranulocytosis on the 29th day of clozapine treatment. She recovered from the agranulocytosis on the 8th day of progression after treatment... -
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- A Case Report of Multiple odontogenic keratocysts associated with basal cell nevus syndrome
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Byun JH, Park SH, Kim UK, Park HR, Chung IK
- KMID: 1543531
- J Korean Assoc Oral Maxillofac Surg.
- 2000 Jun;26(3):305-309.
The basal cell nevus syndrome is a well recognized entity, the major symptoms of which are basal cell nevi, multiple jaw cysts, skeletal anomalies, and ectopic calcification. The syndrome... -
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- A Case of Familial Juvenile Hyperuricemic Nephropathy with Novel Uromodulin Gene Mutation, a Novel Heterozygous Missense Mutation in Korea
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Lee DH, Kim JK, Oh SE, Noh JW, Lee YK
- KMID: 1779244
- J Korean Med Sci.
- 2010 Nov;25(11):1680-1682.
- doi: 10.3346/jkms.2010.25.11.1680
Familial Juvenile hyperuricemic nephropathy (FJHN, OMIM #162000) is a rare autosomal dominant disorder characterized by hyperuricemia with renal uric acid under-excretion, gout and chronic kidney disease. In most but not... -
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- Oral Manifestation and Treatment in Cleidocranial Dysplasia Patient: A Case Report
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Jo HW, Choi SY, Kim JW, Byeon KJ, Kim CS
- KMID: 1474302
- J Korean Assoc Maxillofac Plast Reconstr Surg.
- 2009 Sep;31(5):440-443.
Cleidocranial dysplasia(CCD) is a rare syndrome usually caused by an autosomal dominant gene or no apparent genetic cause. The skull is large and short with marked bossing of the frontal... -
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- An autopsy case of Adams-Oliver syndrome
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Jun SY, Khang SK, Park SH
- KMID: 1730652
- J Korean Med Sci.
- 2000 Aug;15(4):482-484.
- doi: 10.3346/jkms.2000.15.4.482
We report an autopsy case of a male fetus with Adams-Oliver syndrome. His mother was a healthy, 31-year-old woman and her family and past histories were unremarkable. Therapeutic termination was... -
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