논문KCI 등재
Metaphyseal Dysplasia Without Hypotrichosis Caused by RNA Component of Mitochondrial RNA-Processing Endoribonuclease ( RMRP ) Gene Variants: The First Case in Korea
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참고문헌 (10)
- Verloes A, "Recessive metaphyseal dysplasia without hypotrichosis. A syndrome clinically distinct from McKusick cartilage-hair hypoplasia", J Med Genet, 27, pp.693~696 (1990)
- Horn D, "Anauxetic dysplasia, a spondylometaepiphyseal dysplasia with extreme dwarfism", J Med Genet, 38, pp.262~265 (2001)
- Hermanns P, "RMRP mutations in cartilage-hair hypoplasia", Am J Med Genet A, 140, pp.2121~2130 (2006)
- Reicherter K, "Cartilage-hair hypoplasia caused by novel compound heterozygous RMRP mutations", Indian Pediatr, 48, pp.559~561 (2011)
- Bonafé L, "RMRP gene sequence analysis confirms a cartilage-hair hypoplasia variant with only skeletal manifestations and reveals a high density of single-nucleotide polymorphisms", Clin Genet, 61, pp.146~151 (2002)
- Vakkilainen S, "‘Metaphyseal dysplasia without hypotrichosis’ can present with late-onset extraskeletal manifestations", J Med Genet, 57, pp.18~22 (2020)
- Nakashima E, "RMRP mutations in Japanese patients with cartilage-hair hypoplasia", Am J Med Genet A, 123A, pp.253~256 (2003)
- Bonafé L, "Evolutionary comparison provides evidence for pathogenicity of RMRP mutations", PLoS Genet, 1, pp.e47~ (2005)
- Thiel CT, "The molecular basis of the cartilage-hair hypoplasia-anauxetic dysplasia spectrum", Best Pract Res Clin Endocrinol Metab, 25, pp.131~142 (2011)
- Mäkitie O, "GeneReviews" (2012), University of Washington
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