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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
- 2018.1
- 수록면
- 128 - 132 (5page)
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초록· 키워드
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Pfeiffer syndrome is a rare genetic disorder characterized by premature fusion of certain skull bones (craniosynostosis) and anomalies of the face and extremities. A female newborn showing ocular proptosis and typical cloverleaf skull was considered as having Pfeiffer syndrome type 2. She also had coccygeal anomaly resembling a human tail. However, the accompanying vertebral malformations are rare in Pfeiffer syndrome. Molecular genetic testing confirmed sporadic fibroblast growth factor receptor 2 mutation in this patient. Thus, molecular genetic testing should be considered for any type of Pfeiffer syndrome to obtain definite diagnosis.
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참고문헌 (18)
참고문헌 신청
Vogels A / 2006 / Pfeiffer syndrome / Orphanet J Rare Dis 1:19
신충희 / 2009 / 척추 기형을 동반한 파이퍼 증후군: 증례 보고 / 대한영상의학회지 60(1):57~60
Cohen MM Jr / 1993 / Pfeiffer syndrome update, clinical subtypes, and guidelines for differential diagnosis / Am J Med Genet 45:300~307
Saldino RM / 1972 / Familial acrocephalosyndactyly (pfeiffer syndrome) / Am J Roentgenol Radium Ther Nucl Med 116:609~622
이민영 / 2010 / A case of Pfeiffer syndrome with c833_834GC>TG (Cys278Leu) mutation in the FGFR2 gene / Korean Journal of Pediatrics 53(7):774~777
신충희 / 2009 / 척추 기형을 동반한 파이퍼 증후군: 증례 보고 / 대한영상의학회지 60(1):57~60
Cohen MM Jr / 1993 / Pfeiffer syndrome update, clinical subtypes, and guidelines for differential diagnosis / Am J Med Genet 45:300~307
Saldino RM / 1972 / Familial acrocephalosyndactyly (pfeiffer syndrome) / Am J Roentgenol Radium Ther Nucl Med 116:609~622
이민영 / 2010 / A case of Pfeiffer syndrome with c833_834GC>TG (Cys278Leu) mutation in the FGFR2 gene / Korean Journal of Pediatrics 53(7):774~777
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