- Missense Mutations in the CTSC Gene in Saudi Families Segregating Papillon-Lefèvre Syndrome
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Albalawi A, Hashmi JA, Alfadhli F, Almatrafi , Ramzan K, Basit S
- KMID: 2467206
- Ann Dermatol.
- 2020 Feb;32(1):77-80.
- doi: 10.5021/ad.2020.32.1.77
No abstract available. -
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- Periventricular nodular heterotopia in a child with a mild Mowat–Wilson phenotype caused by a novel missense mutation of ZEB2
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Kim YO, Lee YY, Kim MK, Woo YJ
- KMID: 2470101
- J Genet Med.
- 2019 Dec;16(2):71-75.
- doi: 10.5734/JGM.2019.16.2.71
Periventricular nodular heterotopia (PNH) is a malformation of cortical development in which normal neurons inappropriately cluster in periventricular areas. Patients with Mowat–Wilson syndrome (MWS) typically present with facial gestalt, complex... -
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- X-linked Charcot-Marie-Tooth disease case with a novel missense mutation in GJB1 gene
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Lee JM, Shin JH
- KMID: 2435951
- J Genet Med.
- 2018 Dec;15(2):107-109.
- doi: 10.5734/JGM.2018.15.2.107
X-linked Charcot-Marie-Tooth disease type 1 (CMTX1) is caused by the mutation in GJB1 gene, characterized by the transient central nervous system involvement and long standing peripheral polyneuropathy which does not... -
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- Trichorhinophalangeal Syndrome Type III Associated with a Novel Missense Mutation in the TRPS1 Gene
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Roh D, Kim TW, Park SM, Lee HJ, Jin H, You HS, Shim WH, Kim GW, Kim HS, Kim BS, Kim MB, Ko HC
- KMID: 2436881
- Korean J Dermatol.
- 2018 Sep;56(8):494-498.
Trichorhinophalangeal syndrome (TRPS) is a rare autosomal dominant hereditary disease caused by mutations in the TRPS1 or the EXT1 gene. Patients show 3 different forms (TRPS I-TRPS III) of this... -
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- A family with X-linked Cornelia de Lange syndrome due to a novel SMC1A missense mutation identified by multi-gene panel sequencing
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Hong S, Lee CG
- KMID: 2435969
- J Genet Med.
- 2018 Jun;15(1):24-27.
- doi: 10.5734/JGM.2018.15.1.24
Cornelia de Lange syndrome (CdLS) is a rare, clinically and genetically heterogeneous, multi-system developmental disorder caused by mutations in genes that encode components of the cohesin complex. X-linked CdLS caused... -
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- Novel KIT Missense Mutation P665S in a Chinese Piebaldism Family
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Zheng Y, Liu F, Yang Y, Liang Y
- KMID: 2395195
- Ann Dermatol.
- 2017 Dec;29(6):801-803.
- doi: 10.5021/ad.2017.29.6.801
No abstract available. -
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- A Case of Ankyloblepharon-Ectodermal Defect-Cleft Lip and/or Palate (AEC) Syndrome with Missense Mutation in TP63 1657(th)
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Kim YS, Hwang TH, Park SJ, Lee HJ, Kim SH, Kim CH, Lee JH, Lee JS, Choi S
- KMID: 2396836
- Neonatal Med.
- 2017 Nov;24(4):192-196.
- doi: 10.5385/nm.2017.24.4.192
Ankyloblepharon-ectodermal defects-cleft lip and/or palate (AEC) syndrome, also known as Hay-Wells syndrome, is a rare autosomal dominant disorder characterized by congenital ectodermal dysplasia. It is caused by mutations in p63... -
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- Cap Myopathy With a Heterozygous TPM3 Missense Mutation
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Jung Y, Park YE, Shin JH, Lee CH, Kim DS
- KMID: 2345248
- J Korean Neurol Assoc.
- 2016 Aug;34(3):224-227.
- doi: 10.17340/jkna.2016.34.3.11
Cap myopathy is pathologically characterized by cap structures comprising well-demarcated areas under the sarcolemma and containing deranged myofibrils and scattered Z-disks. Clinically it presents with slowly progressive muscle weakness, myopathic... -
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- Possible Role of a Missense Mutation of p.P167S on NOTCH3 Gene Associated with Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy
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Choi BW, Park S, Kim HJ
- KMID: 2442856
- Dement Neurocogn Disord.
- 2016 Jun;15(2):52-54.
- doi: 10.12779/dnd.2016.15.2.52
BACKGROUND: Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is a single-gene disorder caused by mutations in the NOTCH3 gene, located on chromosome 19p13. NOTCH3 encodes a transmembrane... -
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- A Pedigree with c.179 Cytosine to Threonine Missense Mutation of SLC12A3 Gene Presenting Gitelman's Syndrome
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Kim Y, Kang SS, Park WY, Jin K, Kim DK, Han S
- KMID: 2328426
- Electrolyte Blood Press.
- 2016 Jun;14(1):16-19.
- doi: 10.5049/EBP.2016.14.1.16
A 42-year-old man came to the hospital presenting chest discomfort and general weakness. He had come to the hospital with the same symptoms 3 months ago and 12 years prior.... -
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- A Novel Missense Mutation of Keratin 17 Gene in a Chinese Family with Steatocystoma Multiplex
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Ha WW, Wang J, Wang W, Fu HY, Tang HY, Tang XF, Zhu J, Yin XY, Yang S, Zhang XJ
- KMID: 2265077
- Ann Dermatol.
- 2013 Nov;25(4):508-510.
- doi: 10.5021/ad.2013.25.4.508
No abstract available. -
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- Comparison of Clinical and Electrophysiological Characteristics between CMTX with Cx32 Missense Mutation and CMT1A with PMP22 Duplication
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Choi BO, Chung KW, Park KD, Kim SM, Shin SH, Sunwoo IN
- KMID: 1956950
- J Korean Neurol Assoc.
- 2004 Jun;22(3):226-234.
BACKGROUND: Charcot-Marie-Tooth (CMT) disease is a clinically and genetically heterogeneous disorder. Connexin32 (Cx32) gene mutations on Xq13.1 cause the X-linked form of CMT disease, and PMP22 gene duplication on 17p11.2-p12... -
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- X-linked Charcot-Marie-Tooth Patient with a Novel Cys168Arg Missense Mutation in the Connexin32 Gene
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Choi BO, Sunwoo IN, Park KD, Kim YJ, Choi KG, Lee MS, Hwang JH, Chung KW
- KMID: 2185720
- J Korean Neurol Assoc.
- 2004 Feb;22(1):76-79.
X-linked Charcot-Marie-Tooth (CMTX) disease is a clinically heterogeneous hereditary motor and sensory neuropathy. The X-linked inheritance showed an absence of male-to-male transmission and a more severe disease phenotype in affected... -
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- Partial HPRT Deficiency Due to a Missense Mutation in the HPRT Gene
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Yang JH, Park MH, Kim DS, Shim JW, Shim JY, Jung HL, Park MS, Yoo HW
- KMID: 2197726
- J Korean Soc Pediatr Nephrol.
- 2003 Apr;7(1):86-90.
An 8-month-old male infant presented with persistent, gross, orange-colored crystals in his urine. His physical and neurological development was normal. Laboratory study showed hyperuricemia, hyperuricosuria and urate crystaluria. He was... -
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- A Family with A Missense Mutation in the SCN5A Gene
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Shin CH, Kim NH, Kim KH, Yoo SS, Choi YB, Oh SK, Hong KM, Jeong JW, Paik MK
- KMID: 2029618
- Korean Circ J.
- 2003 Feb;33(2):150-154.
- doi: 10.4070/kcj.2003.33.2.150
Brugada syndrome, an autosomal dominantly inherited form of ventricular fibrillation, is characterized by ST-segment elevation in leads V1-3 and right bundle-branch block on surface electrocardiogram. It is caused by mutations... -
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- A Novel Mutation (C67Y) in the NOTCH3 Gene in a Korean CADASIL Patient
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Na DL, Moon SY, Kim HY, Seok JI, Kwon JC, Ki CS, Kim JW, Suh YL
- KMID: 1099812
- J Korean Med Sci.
- 2003 Feb;18(1):141-144.
- doi: 10.3346/jkms.2003.18.1.141
We report a 52-yr-old Korean woman with cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) whose diagnosis was confirmed by skin biopsy and the presence of a novel... -
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- Heterozygous Mutations of The Gene for Kir 1.1 (ROMK) in Antenatal Bartter Syndrome Presenting with Transient Hyperkalemia, Evolving to a Benign Course
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Cho JT, Guay-Woodford LM
- KMID: 1099795
- J Korean Med Sci.
- 2003 Feb;18(1):65-68.
- doi: 10.3346/jkms.2003.18.1.65
Bartter-like syndrome encompasses a set of inherited renal tubular disorders associated with hypokalemic metabolic alkalosis, renal salt wasting, hyperreninemic hyperaldosteronism, and normal blood pressure. Antenatal Bartter syndrome, a subtype of... -
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- Thr-6Pro missense mutation in human lysosomal acid lipase (LAL) gene in patients with familial hypercholesterolemia in Korea
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Hwang HS, Hwang JH, Kim HS, Kim NK, Kim SJ, Lee CC, Chung KW
- KMID: 1540016
- J Genet Med.
- 1998 Dec;2(2):65-70.
Lysosomal acid lipase (LAL) plays a central role in the intracellular degradation of neutral lipids derived from plasma lipoproteins. In this study, we investigated the missense mutation within exon 2... -
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