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A rare pseudomyxoma peritonei with a MSH2 variation of unknown significance and two mutation carrier family members

Kim YM, Kim MK

Pseudomyxoma peritonei (PMP) is a rare tumor that usually originates in the appendix, but a small number of cases originate in the ovary. Lynch syndrome (LS) is an autosomal dominant...
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A family with dynamin 2-related centronuclear myopathy without ocular involvement

Park JS, Kim DS, Shin JH

Centronuclear myopathy (CNM) is a rare congenital myopathy that is pathologically characterized by the centrally locatednuclei in most of the muscle fibers. On clinical examination, dynamin 2 (DNM2)-related CNM typically...
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A diagnosis of hypochondroplasia by next generation sequencing

Ahn SM, Kim YH, Baek JW, Bae EJ, Lee HJ

Achondroplasia and hypochondroplasia are the two most common forms of short-limb dwarfism. They are autosomal dominant diseases that are characterized by a rhizomelic shortening of the limbs, large head with...
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A novel FBN1 gene mutation associated with early-onset pneumothorax in Marfan syndrome

Park MJ, Lee DH, Shin YL, Hong YH

Marfan syndrome (MFS) is an inherited connective tissue disorder with a mutation in the fibrillin-1 (FBN1) gene. Fibrillin is a major building block of microfibrils, which constitute the structural component...
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Two cases of TSC2/PKD1 contiguous gene deletion syndrome

You J, Kang E, Kim Y, Lee BH, Ko TS, Kim GH, Choi JH, Yoo HW

Tuberous sclerosis complex (TSC, MIM#191100) is an autosomal dominant neurocutaneous syndrome caused by mutation or deletion of TSC1 encoding hamartin or TSC2 encoding tuberin and characterized by seizure, mental retardation,...
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Two cases of Antley-Bixler syndrome caused by mutations in different genes, FGFR2 and POR

Woo H, Ko JM, Shin CH, Yang SW

Antley-Bixler syndrome (ABS) is a rare form of syndromic craniosynostosis with additional systemic synostosis, including radiohumeral or radioulnar synostosis. Another characteristic feature of ABS is mid-facial hypoplasia that leads to...
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Effectiveness of premarital screening program for thalassemia and sickle cell disorders in Ras Al Khaimah, United Arab Emirates

Salama RA, Saleh AK

PURPOSE: Genetic disorders can be prevented by basic public health measures and activities that focus primarily on education and approaches in Primary Health Care. Premarital screening is one such approach...
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Xeroderma pigmentosum group A with mutational hot spot (c.390-1G>C in XPA) in South Korea

Choi JY, Yun HH, Lee CG

PURPOSE: Xeroderma pigmentosum (XP) is rare autosomal recessive genetic disorder of DNA repair in which the ability to repair damage caused by ultraviolet light is deficient. We reported the first...
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Carrier screening for (CGG)n repeat expansion of FMR1 gene in Korean women

Kang KM, Sung SR, Park JE, Shin YJ, Park SH, Chin MU, Lyu SW, Cha DH, Shim SH

PURPOSE: We examined the prevalence and CGG/AGG repeat structure of expanded alleles of the FMR1 gene in preconceptional and pregnant Korean women. MATERIALS AND METHODS: The CGG repeats in the FMR1...
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DNA damage to human genetic disorders with neurodevelopmental defects

Lee Y, Choi I, Kim J, Kim K

Although some mutations are beneficial and are the driving force behind evolution, it is important to maintain DNA integrity and stability because it contains genetic information. However, in the oxygen-rich...
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