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학술연구/단체지원/교육 등 연구자 활동을 지속하도록 DBpia가 지원하고 있어요.
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연구자들이 자신의 연구와 전문성을 널리 알리고, 새로운 협력의 기회를 만들 수 있는 네트워킹 공간이에요.
논문 기본 정보
- 자료유형
- 학술저널
- 저자정보
- 발행연도
- 2018.1
- 수록면
- 97 - 101 (5page)
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초록· 키워드
오류제보하기
Tricho-rhino-phalangeal syndrome (TRPS) is a hereditary disorder characterized by craniofacial and skeletal abnormalities. A mutation of the TRPS1 gene leads to TRPS type I or type III. A 20-year-old male patient visited our neurologic department with chronic fatigue. He presented with short stature, sparse hair, pear-shaped nose, and brachydactyly. Radiologic study showed short metacarpals, metatarsals with cone-shaped epiphyses, hypoplastic femur and hip joint. Panel sequencing for OMIM (Online Mendelian Inheritance in Man) listed genes revealed a de novo heterozygous frameshift mutation of c.1801_1802delGA (p.Arg601Lysfs*3) of exon 4 of the TRPS1 gene. The diagnosis of TRPS can be challenging due to the rarity and variable phenotype of the disease, clinicians should be aware of its characteristic clinical features that will lead a higher rate of diagnosis.
목차
등록된 정보가 없습니다.
참고문헌 (12)
참고문헌 신청
Momeni P / 2000 / Mutations in a new gene, encoding a zincfinger protein, cause tricho-rhino-phalangeal syndrome type I / Nat Genet 24:71~74
Maas S / Trichorhinophalangeal syndrome. In GeneReviews ®
Napierala D / 2008 / Uncoupling of chondrocyte differentiation and perichondrial mineralization underlies the skeletal dysplasia in tricho-rhino-phalangeal syndrome / Hum Mol Genet 17:2244~2254
Lüdecke HJ / 1995 / Molecular dissection of a contiguous gene syndrome: localization of the genes involved in the Langer-Giedion syndrome / Hum Mol Genet 4:31~36
Maas SM / 2015 / Phenotype and genotype in 103 patients with tricho-rhino-phalangeal syndrome / Eur J Med Genet 58:279~292
Maas S / Trichorhinophalangeal syndrome. In GeneReviews ®
Napierala D / 2008 / Uncoupling of chondrocyte differentiation and perichondrial mineralization underlies the skeletal dysplasia in tricho-rhino-phalangeal syndrome / Hum Mol Genet 17:2244~2254
Lüdecke HJ / 1995 / Molecular dissection of a contiguous gene syndrome: localization of the genes involved in the Langer-Giedion syndrome / Hum Mol Genet 4:31~36
Maas SM / 2015 / Phenotype and genotype in 103 patients with tricho-rhino-phalangeal syndrome / Eur J Med Genet 58:279~292
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