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학술연구/단체지원/교육 등 연구자 활동을 지속하도록 DBpia가 지원하고 있어요.
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논문 기본 정보
- 자료유형
- 학술저널
- 저자정보
- 발행연도
- 2016.1
- 수록면
- 46 - 50 (5page)
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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 frontal bossing, hypoplasia of the mid-face, genu varum and trident hands. Mutations in the fibroblast growth factor receptor-3 (FGFR3) gene, which is located on chromosome 4p16.3, have been reported to cause achondroplasia and hypochondroplasia. More than 98% of achondroplasia cases are caused by the G380R mutation (c.1138G>A or c.1138G>C). In contrast, the N540K mutation (c.1620C>A) is detected in 60-65% of hypochondroplasia cases. Tests for common mutations are often unable to detect the mutation in patients with a clinical diagnosis of hypochondroplasia. In this study, we presented a case of familial hypochondroplasia with a rare mutation in FGFR3 identified by next generation sequencing.
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참고문헌 (17)
참고문헌 신청
Grigelioniené G / 1998 / A novel missense mutation Ile538Val in the fibroblast growth factor receptor 3 in hypochondroplasia / Hum Mutat 11:333
Winterpacht A / 2000 / A novel mutation in FGFR-3 disrupts a putative N-glycosylation site and results in hypochondroplasia / Physiol Genomics 2:9~12
Deutz-Terlouw PP / 1998 / Asn540Thr substitution in the fibroblast growth factor receptor 3tyrosine kinase domain causing hypochondroplasia / Hum Mutat (Suppl 1):S62~S65
Shin S / 2001 / Mutation analysis of fibroblast growth factor receptor 3 (FGFR3) gene in Korean patients with achondroplasia and hypochondroplasia / Korean J Clin Pathol 21:164~168
Matsui Y / 1998 / Genotype phenotype correlation in achondroplasia and hypochondroplasia / J Bone Joint Surg Br 80:1052~1056
Winterpacht A / 2000 / A novel mutation in FGFR-3 disrupts a putative N-glycosylation site and results in hypochondroplasia / Physiol Genomics 2:9~12
Deutz-Terlouw PP / 1998 / Asn540Thr substitution in the fibroblast growth factor receptor 3tyrosine kinase domain causing hypochondroplasia / Hum Mutat (Suppl 1):S62~S65
Shin S / 2001 / Mutation analysis of fibroblast growth factor receptor 3 (FGFR3) gene in Korean patients with achondroplasia and hypochondroplasia / Korean J Clin Pathol 21:164~168
Matsui Y / 1998 / Genotype phenotype correlation in achondroplasia and hypochondroplasia / J Bone Joint Surg Br 80:1052~1056
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