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      KCI등재 SCOPUS

      A case of Pfeiffer syndrome with c833_834GC>TG (Cys278Leu) mutation in the FGFR2 gene

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      https://www.riss.kr/link?id=A104549875

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      다국어 초록 (Multilingual Abstract)

      Pfeiffer syndrome is a rare autosomal dominant disorder characterized by coronal craniosynostosis, brachycephaly, mid-facial hypoplasia,and broad and deviated thumbs and great toes. Pfeiffer syndrome occurs in approximately 1:100,000 live births. Clinical manifestations and molecular genetic testing are important to confirm the diagnosis.
      Mutations of the fibroblast growth factor receptor 1 (FGFR1) gene or FGFR2 gene can cause Pfeiffer syndrome. Here, we describe a case of Pfeiffer syndrome with a novel c833_834GC>TG mutation (encoding Cys278Leu) in the FGFR2 gene associated with a coccygeal anomaly,which is rare in Pfeiffer syndrome.
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      Pfeiffer syndrome is a rare autosomal dominant disorder characterized by coronal craniosynostosis, brachycephaly, mid-facial hypoplasia,and broad and deviated thumbs and great toes. Pfeiffer syndrome occurs in approximately 1:100,000 live births. Clin...

      Pfeiffer syndrome is a rare autosomal dominant disorder characterized by coronal craniosynostosis, brachycephaly, mid-facial hypoplasia,and broad and deviated thumbs and great toes. Pfeiffer syndrome occurs in approximately 1:100,000 live births. Clinical manifestations and molecular genetic testing are important to confirm the diagnosis.
      Mutations of the fibroblast growth factor receptor 1 (FGFR1) gene or FGFR2 gene can cause Pfeiffer syndrome. Here, we describe a case of Pfeiffer syndrome with a novel c833_834GC>TG mutation (encoding Cys278Leu) in the FGFR2 gene associated with a coccygeal anomaly,which is rare in Pfeiffer syndrome.

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      참고문헌 (Reference)

      1 신충희, "척추 기형을 동반한 파이퍼 증후군: 증례 보고" 대한영상의학회 60 (60): 57-60, 2009

      2 Schell U, "de Die-Smulders C, et al. Mutations in FGFR1 and FGFR2 cause familial and sporadic Pfeiffer syndrome" 4 : 323-328, 1995

      3 Moore MH, "Spinal anomalies in Pfeiffer syndrome" 32 : 251-254, 1995

      4 Fearon JA, "Pfeiffer syndrome: a treatment evaluation" 123 : 1560-1569, 2009

      5 Cohen MM, Jr, "Pfeiffer syndrome update, clinical subtypes, and guidelines for differential diagnosis" 45 : 300-307, 1993

      6 Plomp AS, "Pfeiffer syndrome type 2: further delineation and review of the literature" 75 : 245-251, 1998

      7 Vogels A, "Pfeiffer syndrome" 1 : 19-, 2006

      8 Harrison CM, "Osteopenia of prematurity: a national survey and review of practice" 97 : 407-413, 2008

      9 Fitzgerald O'Connor EJ, "Ocular advancement in monobloc distraction" 121 : 1570-1577, 2009

      10 Reardon W, "Mutations in the fibroblast growth factor receptor 2 gene cause Crouzon syndrome" 8 : 98-103, 1994

      1 신충희, "척추 기형을 동반한 파이퍼 증후군: 증례 보고" 대한영상의학회 60 (60): 57-60, 2009

      2 Schell U, "de Die-Smulders C, et al. Mutations in FGFR1 and FGFR2 cause familial and sporadic Pfeiffer syndrome" 4 : 323-328, 1995

      3 Moore MH, "Spinal anomalies in Pfeiffer syndrome" 32 : 251-254, 1995

      4 Fearon JA, "Pfeiffer syndrome: a treatment evaluation" 123 : 1560-1569, 2009

      5 Cohen MM, Jr, "Pfeiffer syndrome update, clinical subtypes, and guidelines for differential diagnosis" 45 : 300-307, 1993

      6 Plomp AS, "Pfeiffer syndrome type 2: further delineation and review of the literature" 75 : 245-251, 1998

      7 Vogels A, "Pfeiffer syndrome" 1 : 19-, 2006

      8 Harrison CM, "Osteopenia of prematurity: a national survey and review of practice" 97 : 407-413, 2008

      9 Fitzgerald O'Connor EJ, "Ocular advancement in monobloc distraction" 121 : 1570-1577, 2009

      10 Reardon W, "Mutations in the fibroblast growth factor receptor 2 gene cause Crouzon syndrome" 8 : 98-103, 1994

      11 Jaiho Chung, "Monoblock Craniofacial Internal Distraction in a Child with Pfeiffer Syndrome: A Case Report" 대한의학회 23 (23): 342-346, 2008

      12 Zhang Y, "Genomic organization of the human fibroblast growth factor receptor 2 (FGFR2) gene and comparative analysis of the human FGFR gene family" 230 : 69-79, 1999

      13 Robin NH, "Favorable prognosis for children with Pfeiffer syndrome types 2 and 3: implications for classification" 75 : 240-244, 1998

      14 Sarkar S, "FGF2 promotes skeletogenic differentiation of cranial neural crest cells" 128 : 2143-2152, 2001

      15 Passos-Bueno MR, "Clinical spectrum of fibroblast growth factor receptor mutations" 14 : 115-125, 1999

      16 Tanimoto Y, "A soluble form of fibroblast growth factor receptor 2 (FGFR2) with S252W mutation acts as an efficient inhibitor for the enhanced osteoblastic differentiation caused by FGFR2 activation in Apert syndrome" 279 : 45926-45934, 2004

      17 Eswarakumar VP, "A gain-of-function mutation of Fgfr2c demonstrates the roles of this receptor variant in osteogenesis" 101 : 12555-12560, 2004

      18 Muenke M, "A common mutation in the fibroblast growth factor receptor 1 gene in Pfeiffer syndrome" 8 : 269-274, 1994

      19 Yun KW, "A case of Pfeiffer syndrome with hydrocephalus and multiple congenital anomalies" 12 : 87-92, 2005

      20 Moon Sung Park, "A Case of Pfeiffer Syndrome" 대한의학회 21 (21): 374-378, 2006

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      학술지 이력

      학술지 이력
      연월일 이력구분 이력상세 등재구분
      2023 평가예정 해외DB학술지평가 신청대상 (해외등재 학술지 평가)
      2020-01-15 학술지명변경 한글명 : Korean Journal of Pediatrics -> Clinical and Experimental Pediatrics
      외국어명 : Korean Journal of Pediatrics -> Clinical and Experimental Pediatrics
      KCI등재
      2020-01-01 평가 등재학술지 유지 (해외등재 학술지 평가) KCI등재
      2019-07-16 학회명변경 한글명 : 대한소아과학회 -> 대한소아청소년과학회 KCI등재
      2010-01-01 평가 등재학술지 유지 (등재유지) KCI등재
      2009-01-30 학술지명변경 한글명 : 소아과 -> Korean Journal of Pediatrics KCI등재
      2008-01-01 평가 등재학술지 유지 (등재유지) KCI등재
      2006-01-01 평가 등재학술지 유지 (등재유지) KCI등재
      2003-01-01 평가 등재학술지 선정 (등재후보2차) KCI등재
      2002-01-01 평가 등재후보 1차 PASS (등재후보1차) KCI등재후보
      2000-07-01 평가 등재후보학술지 선정 (신규평가) KCI등재후보
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      학술지 인용정보

      학술지 인용정보
      기준연도 WOS-KCI 통합IF(2년) KCIF(2년) KCIF(3년)
      2016 0.18 0.18 0.16
      KCIF(4년) KCIF(5년) 중심성지수(3년) 즉시성지수
      0.17 0.2 0.369 0.06
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