- Analysis of Inheritance in Infantile Nystagmus
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Kim IS, Park SC
- KMID: 2022641
- J Korean Ophthalmol Soc.
- 1996 Jun;37(6):1054-1061.
Infantile nystagmus is characterized by involuntary oscillations of one or both eyes being present at birth or shortly thereafter without systemic or ophthalmologic lesions. Its inheritance pattern is not known... -
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- A case of hereditary hemorrhagic telangiectasia
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Lee YS, Kim S, Kang EK, Park JD
- KMID: 2279317
- Korean J Pediatr.
- 2007 Oct;50(10):1018-1023.
- doi: 10.3345/kjp.2007.50.10.1018
Hereditary hemorrhagic telagiectasia (HHT), which is characterized by the classic triad of mucocutaneous telangiectases, arteriovenous malformations (AVMs) and inheritance, is an autosomal dominant disorder. The characteristic manifestations of HHT are... -
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- Study of Genetic Inheritance in Osmidrosis Patients Based on Pedigree Analysis
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Lee JW, Kim JT, Kim CY
- KMID: 2203152
- J Korean Soc Plast Reconstr Surg.
- 2008 Sep;35(5):565-568.
PURPOSE: Bacterial degeneration of sweat and increased secretion of over developed apocrine sweat gland are known causes of osmidrosis. In addition, genetic inheritance must be another important cause, because there... -
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- Malnutrition-induced Acquired Palmoplantar Keratoderma: A Case Report
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Yun JW, Woo Y, Kim M, Park HJ
- KMID: 2391169
- Korean J Dermatol.
- 2017 Aug;55(7):454-456.
Palmoplantar keratoderma is characterized clinically by excessive thickening of the skin and histologically by hyperkeratosis on the palms and soles. It can be classified based on inheritance patterns, causes, clinical... -
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- Etiology of Hearing Loss and Genetic Hearing Loss
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Kim SY, Choi BY
- KMID: 1793733
- Hanyang Med Rev.
- 2015 May;35(2):66-71.
- doi: 10.7599/hmr.2015.35.2.66
Hearing loss is one of the most common sensory disorders and has numerous environmental and genetic factors that influence its onset and development. Hearing loss can be classified by either... -
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- The Prevalence and Genetic Pattern of Clinodactyly in Korean Populations
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Song D, Chung J, Shin HG, Jung SJ, Lee JH
- KMID: 2354349
- Korean J Phys Anthropol.
- 2016 Sep;29(3):99-103.
- doi: 10.11637/kjpa.2016.29.3.99
Clinodactyly, as rare congenital malformation, refers to a curvature of a digit in a radial or ulnar direction in the coronal plane. The abnormality is inherited as an autosomal dominant... -
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- Ultrastructural Findings of Hereditary Sensory and Autonomic Neuropathies, Type IV and II
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Go JH, Suh YL
- KMID: 2275734
- Korean J Pathol.
- 1998 Jul;32(7):535-539.
Hereditary sensory and autonomic neuropathies (HSAN) are disorders of hereditary neuropathy mainly affecting sensation and also accompanying autonomic nervous system dysfunction. They are divided into five subtypes based on inheritance... -
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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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- A Case of Craniofrontonasal Dysplasia Diagnosed at Birth
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Rho JA, Rho YI, Moon KR, Park YB, Park SK, Kim EY
- KMID: 2206984
- J Korean Pediatr Soc.
- 2003 Oct;46(10):1044-1046.
Craniofrontonasal dysplasia(CFND), a rare congenital syndrome, is characterized by varying degrees of frontonasal dysplasia, craniosynostosis, and variable extracranial abnormalities. It was first reported by Cohen in 1979. The inheritance pattern... -
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- Hereditary Spastic Paraplegia
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Kim NA, Cho MK, Coe CJ, Yun DJ, Suh JH
- KMID: 1699487
- J Korean Pediatr Soc.
- 1982 May;25(5):498-502.
Hereditary spastic paraplegia is a familial disorder which is inherited by autosomal dominant, autosomal recessive or sex linked pattern. We experienced a family who has hereditary spastic paraplegia with mental... -
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- Surgical Outcome of Familial Lens Dislocation in Two Families
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Lee DH, Lee WJ, Kim JC, Shyn KH
- KMID: 2108052
- J Korean Ophthalmol Soc.
- 1996 Feb;37(2):371-376.
The congenital lens dislocation is a uncommon genetic disease, which is inherited autosomal dominant mannner and less likely autosomal recessive. The cause of the disease has not been fully understood... -
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- Familial Myotubular Myopathy Occurred in a Sibling
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Hwang H, Kwon HJ, Chai JH, Kim KJ, Hwang YS
- KMID: 2007336
- J Korean Child Neurol Soc.
- 2001 Oct;9(2):425-429.
Myotubular or centronuclear myopathy(MTM) is a rare congenital myopathy, which is characterized by predominance and atrophy of type 1 fibers and centrally located nuclei in muscle pathology. The clinical features... -
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- An Anesthetic Experience of a Patient with Cis A2B3 Blood Type
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Kang BJ
- KMID: 2298977
- Korean J Anesthesiol.
- 2001 Jan;40(1):95-99.
- doi: 10.4097/kjae.2001.40.1.95
Cis A2B3 is a rare blood type with unusual inheritance pattern of A2, B3 genes on the same chromosome in contradiction to the general Mendelian pattern. Unlike the AB... -
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- A Case of Centronuclear Myopathy
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Kim HK, Ryu WS, Hong YH, Sung JJ, Park KS, Park SH, Lee KW
- KMID: 2065614
- J Korean Neurol Assoc.
- 2006 Oct;24(5):491-494.
Centronuclear myopathy is a rare congenital myopathy, which is characterized by centrally located nuclei and hypotrophy or predominance of type 1 fibers in muscle pathology. It is classified into three... -
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- Primary Autosomal Recessive Distal Renal Tubular Acidosis Caused by a Common Homozygous SLC4A1 Mutation in Two Lao Families
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Park E, Phaymany V, Yi ES, Phangmanixay S, Cheong HI, Choi Y
- KMID: 2409208
- J Korean Med Sci.
- 2018 Mar;33(13):e95.
- doi: 10.3346/jkms.2018.33.e95
Primary distal renal tubular acidosis (dRTA) caused by mutations of the SLC4A1 gene, which encodes for erythroid and kidney isoforms of anion exchanger, shows marked difference in inheritance patterns and... -
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- A Case of Bart's Syndrome
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Jeon HS, Hong YJ, Ahn DH, Yoo HJ, Chi JG
- KMID: 2142493
- J Korean Pediatr Soc.
- 1994 Jan;37(1):104-108.
A female newborn had the following characteristics; a congenital localized absence of skin over the lower extremities; blistering of the skin or mucous membrane, incited by trauma, which heals without... -
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- Evoked Potential Studies in the Primary Cerebellar Ataxias
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Kim JS, Lee KW, Myung HJ
- KMID: 1957554
- J Korean Neurol Assoc.
- 1987 Dec;5(2):159-165.
Visual (VEP), brainstem auditory (BAEP), and median nerve somatosensory (MNSEP) evoked potentials were studied in 18 patients with primary cerebellar ataxia, and were found to be abnormal in 30%, 17%,... -
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- A Case of Familial Anterior Cervical Hypertrichosis
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Lee GY, Choi HY, Myung KB, Choi YW
- KMID: 2247988
- Korean J Dermatol.
- 2009 Mar;47(3):368-370.
Anterior cervical hypertrichosis (ACH) refers to a patch of hair that is presented at the lower anterior aspect of the neck just above the sternal notch along the cervical midline.... -
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- Prenatally Diagnosed and Surviving Patient with Jarcho-Levin Syndrome: Case Report with Literature Review
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Lee CY, Lee NM, Yi DY, Yun SW, Chae SA, Lim IS, Kim GJ
- KMID: 2430223
- Perinatology.
- 2018 Dec;29(4):185-188.
- doi: 10.14734/PN.2018.29.4.185
Jarcho-Levin syndrome is a congenital disorder characterized by several vertebral and costal anomalies. Other abnormalities have also been described, including neural tube defects, Arnold-Chiari malformation, renal/urinary tract abnormalities, hydrocephalus, hydroureteronephrosis,... -
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- The Blue Sclera in Osteogenesis Imperfecta
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Kim SE, Lim KH, Ahn CS
- KMID: 2336654
- J Korean Ophthalmol Soc.
- 1998 Jan;39(1):204-208.
Osteogenesis imperfecta is relatively rare hereditary disease. It is characterized by frequent multiple bone fractures, spine scoliosis due to fragility of bone and is often associated with blue sclera, deafness... -
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