- 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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- Homozygous Exon 4 Deletion in Parkin Gene in a Korean Family with Autosomal Recessive Early Onset Parkinsonism
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Kim JS, Lee KS, Kim YI, Lee KH, Kim HT
- KMID: 1779486
- Yonsei Med J.
- 2003 Apr;44(2):336-339.
- doi: 10.3349/ymj.2003.44.2.336
The gene responsible for autosomal recessive parkinsonism, parkin, has recently been identified on chromosome 6q. It has been shown to be mutated in Japanese and European families, most of whom... -
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- Autosomal Recessive Multiple Epiphyseal Dysplasia in a Korean Girl Caused by Novel Compound Heterozygous Mutations in the DTDST (SLC26A2) Gene
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Cho TJ, Kim OH, Lee HR, Shin SJ, Yoo WJ, Park WY, Park SS, Cho SI, Choi IH
- KMID: 1792968
- J Korean Med Sci.
- 2010 Jul;25(7):1105-1108.
- doi: 10.3346/jkms.2010.25.7.1105
Multiple epiphyseal dysplasia is caused by heterogenous genotypes involving more than six genes. Recessive mutations in the DTDST gene cause a phenotype of recessive multiple epiphyseal dysplasia (rMED). The authors... -
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- Wilson Disease Comorbid with Hereditary Sensory Autonomic Neuropathy Type IV and Gitelman Syndrome
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Kim JY, Park SS, Yang HR
- KMID: 2451580
- Pediatr Gastroenterol Hepatol Nutr.
- 2019 Jul;22(4):392-399.
- doi: 10.5223/pghn.2019.22.4.392
Wilson disease a rare autosomal recessive inherited disorder of copper metabolism, is characterized by excessive deposition of copper in the liver, brain, and other tissues. Wilson disease is often fatal... -
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- Two Novel Mutations in the Aquaporin 2 Gene in a Girl with Congenital Nephrogenic Diabetes Insipidus
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Cheong HI, Cho SJ, Zheng SH, Cho HY, Ha IS, Choi Y
- KMID: 2157767
- J Korean Med Sci.
- 2005 Dec;20(6):1076-1078.
- doi: 10.3346/jkms.2005.20.6.1076
Congenital nephrogenic diabetes insipidus (CNDI) is a rare inherited disorder characterized by insensitivity of the kidney to the antidiuretic effect of vasopressin. There are three inheritance patterns of CNDI: the... -
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- A Case of Anhidrotic Ectodermal Dysplasia with Atopic Dermatitis
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Yim YS, Kim GI, Park CW, Lee CH
- KMID: 2251092
- Korean J Dermatol.
- 2001 Feb;39(2):226-228.
Anhidrotic ectodermal dysplasia(AED) is a rare hereditary disorder characterized by hypohidrosis or anhidrosis, hypotrichosis, dental hypoplasia and characteristic facies. Additional less consistent symptoms include nail dystrophy, hyperkeratosis of the palms... -
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- A case of complete testicular feminization syndrome with Inguinal Hernias
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Choe HY, Joo SH, Kim YJ, Cho SJ
- KMID: 2020133
- Korean J Obstet Gynecol.
- 2003 Jan;46(1):166-170.
Complete testicular feminization syndrome (androgen insensitivity syndrome) is the most common form of male pseudohermaphroditism, transmitted by means of maternal X-linked recessive gene. This syndrome is marked by unique combination;... -
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- A Case of Factor VII Deficiency with Normal Factor VII Antigen Level
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Kwon HJ, Moon HS
- KMID: 2038496
- Korean J Hematol.
- 1997 Nov;32(3):419-422.
Factor VII (FVII) deficiency is a rare hereditary disorder with a reduced FVII:C activity, which is transmitted by an autosomal recessive gene with variable expressions and a high penetrance. FVII... -
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- Pelviscopic Gonadectomy in two cases of Complete Androgen Insensitivity Syndrome
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Rhee SJ, Gu HJ, Han KA, Shin JG, Choi WJ, Lee SA, Lee JH, Paik WY
- KMID: 2261569
- Korean J Obstet Gynecol.
- 1999 Oct;42(10):2396-2401.
Androgen insensitivity syndrome is a genetic syndrome characterized by complete or partial resistance of end organs to the peripheral effect of androgen. The phenotype of this condition is female, despite... -
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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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- Mapping of the Faded (fe) Gene to a Region between D10mit191 and D10mit44 on Mouse Chromosome 10
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Oh SH, Nam Y, Suh JG
- KMID: 2391857
- Lab Anim Res.
- 2011 Mar;27(1):41-46.
- doi: 10.5625/lar.2011.27.1.41
The faded mouse is a coat color mutant that shows faded coat color and age-related loss of pigmentation. This mutation is transmitted by an autosomal recessive gene with 100% penetrance.... -
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- A Case Report of Complete Testicular Feminization Syndrome with Rudimentary Salpinx
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Jo JH, Park YB, Park TH, Jang WY, Kim DG, Kim KW, Kim DK, Yoon HW, Kim DH, Kim MW, Park ST
- KMID: 2076267
- Korean J Obstet Gynecol.
- 2001 May;44(5):986-989.
The Complete testicular feminization syndrome is a hereditary syndrome characterized clinically by female phenotype with 46, XY karyotype and bilateral testes. There is a congenital insensitivity to androgens, transmitted... -
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- FEMALE PSEUDOHERMAPHRODITISM DUE TO ADRENOGENITAL SYNDROME
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Cho SY, Chung HK, Park SJ, Kim YB, Yang SJ
- KMID: 2119322
- J Korean Soc Plast Reconstr Surg.
- 1997 Jan;24(1):186-198.
Female pseudohermaphroditism due to adrenogenital syndrome is a condition in which individuals with a 46XX karyotype, negative H-Y antigen, normal mullerian duct derivatives, and a lack of development of w... -
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- Clinical and Genetic Analysis of Korean Patients with Miyoshi Myopathy: Identification of Three Novel Mutations in the DYSF Gene
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Cho HJ, Sung DH, Kim EJ, Yoon CH, Ki CS, Kim JW
- KMID: 2157828
- J Korean Med Sci.
- 2006 Aug;21(4):724-727.
- doi: 10.3346/jkms.2006.21.4.724
Miyoshi myopathy (MM) is an autosomal recessive distal muscular dystrophy caused by mutations in the dysferlin gene (DYSF) on chromosome 2p13. Although MM patients and their mutations in the DYSF... -
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- Biological Analysis of a New Spontaneous Mutant Mouse Showing Deafness and Circling Behavior
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Cho DY, Kim MS, Chung WH, Ryoo ZY, Hong SH
- KMID: 2276097
- Korean J Otolaryngol-Head Neck Surg.
- 2004 Feb;47(2):115-126.
BACKGROUND AND OBJECTIVES: Deafness is the most common sensory deficit and hereditary defect in human populations. The present study investigated the causative gene in circling mice using the complementation test.... -
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- Predisposition of genetic disease by modestly decreased expression of GCH1 mutant allele
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Kim YS, Choi YB, Lee JH, Yang SH, Cho JH, Shin CH, Lee SD, Paik MK, Hong KM
- KMID: 756328
- Exp Mol Med.
- 2008 Jun;40(3):271-275.
- doi: 10.3858/emm.2008.40.3.271
Recently it was shown that single nucleotide polymorphisms (SNPs) can explain individual variation because of the small changes of the gene expression level and that the 50% decreased expression of... -
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- Clinical Characteristics and Genotype-Phenotype Correlation of Korean Patients with Spinal and Bulbar Muscular Atrophy
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Song JS, Kim KA, Min JH, Ki CS, Kim JW, Sung DH, Kim BJ
- KMID: 2366340
- Yonsei Med J.
- 2015 Jul;56(4):993-997.
- doi: 10.3349/ymj.2015.56.4.993
PURPOSE: Spinal and bulbar muscular atrophy (SBMA) is an X-linked motor neuron disease characterized by proximal muscle weakness, muscle atrophy, and fasciculation. Although SBMA is not uncommon in Korea, there... -
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