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논문 기본 정보
- 자료유형
- 학술저널
- 저자정보
- 발행연도
- 2017.1
- 수록면
- 92 - 94 (3page)
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Dear Editor, Acromicric dysplasia (AD, MIM 102370) is a rare skeletal dysplasia characterized by severe short stature, short hands and feet, normal intelligence, and mild facial dysmorphism [1]. The radiological manifestations of AD include delayed bone age, cone-shaped epiphyses, internal notch of the femoral head, short metacarpals, and short phalanges [2]. Recently, missense mutations clustered in exons 41 and 42 in the transforming growth factor-β binding-protein-like domain 5 (TB5) of FBN1 were identified as causative mutations for AD [2, 3]. Here, we present the clinical and radiographic findings and effects of recombinant human growth hormone (rhGH) treatment for 3.5 yr in a child with AD, which was confirmed by identification of a novel mutation in FBN1.
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참고문헌 (10)
참고문헌 신청
Cain SA / 2012 / Fibrillin-1 mutations causing Weill-Marchesani syndrome and acromicric and geleophysic dysplasias disrupt heparan sulfate interactions / PLoS One 7 : e48634
Faivre L / 2001 / Acromicric dysplasia: long term outcome and evidence of autosomal dominant inheritance / J Med Genet 38 : 745 ~ 749
Faivre L / 2003 / Clinical homogeneity and genetic heterogeneity in Weill-Marchesani syndrome / Am J Med Genet A 123A : 204 ~ 207
Faivre L / 2003 / In frame fibrillin-1 gene deletion in autosomal dominant Weill-Marchesani syndrome / J Med Genet 40 : 34 ~ 36
Hagenas L / 2003 / Skeletal dysplasia, growth hormone treatment and body proportion: comparison with other syndromic and non-syndromic short children / Horm Res 60 (S3) : 65
Faivre L / 2001 / Acromicric dysplasia: long term outcome and evidence of autosomal dominant inheritance / J Med Genet 38 : 745 ~ 749
Faivre L / 2003 / Clinical homogeneity and genetic heterogeneity in Weill-Marchesani syndrome / Am J Med Genet A 123A : 204 ~ 207
Faivre L / 2003 / In frame fibrillin-1 gene deletion in autosomal dominant Weill-Marchesani syndrome / J Med Genet 40 : 34 ~ 36
Hagenas L / 2003 / Skeletal dysplasia, growth hormone treatment and body proportion: comparison with other syndromic and non-syndromic short children / Horm Res 60 (S3) : 65
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