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Clinical Dysmorphology

Volumn 17, Issue 1, 2008, Pages 73-74

A mutation in FGFR2 in a child with Pfeiffer syndrome and a sacral appendage

(4) Lai, Angeline H M a Tan, Yuen Ming a Law, Hai Yang a Yeow, Vincent K L a

a KK WOMEN'S AND CHILDREN'S HOSPITAL (Singapore)

Author keywords

[No Author keywords available]

Indexed keywords

FIBROBLAST GROWTH FACTOR RECEPTOR 2;

ACROCEPHALOSYNDACTYLY; ARTICLE; CASE REPORT; CHOANA ATRESIA; EXOPHTHALMOS; FIBROBLAST GROWTH FACTOR RECEPTOR 2 GENE; GENE; GENE MUTATION; HUMAN; INFANT; MALE; MIDFACE HYPOPLASIA; PRIORITY JOURNAL; SKULL MALFORMATION;

ACROCEPHALOSYNDACTYLIA; HUMANS; INFANT, NEWBORN; MALE; MUTATION; RECEPTOR, FIBROBLAST GROWTH FACTOR, TYPE 2; SACRUM; TOMOGRAPHY, X-RAY COMPUTED;

EID: 40349110872 PISSN: 09628827 EISSN: None Source Type: Journal
DOI: 10.1097/MCD.0b013e3282efdaf1 Document Type: Article

Times cited : (7)

References (5)

1
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- Vertebral anomalies and cartilaginous tracheal sleeve in three patients with Pfeiffer syndrome carrying the S351C FGFR2 mutation
- Gonzalez M, Heuertz S, Martinovic J, Delahaye S, Bazin A, Loget P, et al. (2005). Vertebral anomalies and cartilaginous tracheal sleeve in three patients with Pfeiffer syndrome carrying the S351C FGFR2 mutation. Clin Genet 68:179-181.
- (2005) Clin Genet , vol.68 , pp. 179-181
- Gonzalez, M.¹ Heuertz, S.² Martinovic, J.³ Delahaye, S.⁴ Bazin, A.⁵ Loget, P.⁶

2
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- Mutation screening in patients with syndromic craniosynostoses indicates that a limited number of recurrent FGFR2 mutations accounts for severe forms of Pfeiffer syndrome
- Lajeunie E, Heuertz S, El Ghouzzi V, Martinovic J, Renier D, Le Merrer M, Bonaventure J (2006). Mutation screening in patients with syndromic craniosynostoses indicates that a limited number of recurrent FGFR2 mutations accounts for severe forms of Pfeiffer syndrome. Eur J Hum Genet 14:289-298.
- (2006) Eur J Hum Genet , vol.14 , pp. 289-298
- Lajeunie, E.¹ Heuertz, S.² El Ghouzzi, V.³ Martinovic, J.⁴ Renier, D.⁵ Le Merrer, M.⁶ Bonaventure, J.⁷

3
- 12844282848
- A novel insertion in the FGFR2 gene in a patient with Crouzon phenotype and sacrococcygeal tail
- Lapunzina P, Fernandez A, Sanchez Romero JM, Delicado A, Saenz de Pipaon M, Lopez Pajares I, Molano J (2005). A novel insertion in the FGFR2 gene in a patient with Crouzon phenotype and sacrococcygeal tail. Birth Defects Res A Clin Mol Teratol 73:61-64.
- (2005) Birth Defects Res A Clin Mol Teratol , vol.73 , pp. 61-64
- Lapunzina, P.¹ Fernandez, A.² Sanchez Romero, J.M.³ Delicado, A.⁴ Saenz de Pipaon, M.⁵ Lopez Pajares, I.⁶ Molano, J.⁷

4
- 33749042120
- Further evidence of association between mutations in FGFR2 and syndromic craniosynostosis with sacrococcygeal eversion
- Oliveira NAJ, Alonso LG, Fanganiello RD, Passos-Bueno MR (2006). Further evidence of association between mutations in FGFR2 and syndromic craniosynostosis with sacrococcygeal eversion. Birth Defects Res A Clin Mol Teratol 76:629-633.
- (2006) Birth Defects Res A Clin Mol Teratol , vol.76 , pp. 629-633
- Oliveira, N.A.J.¹ Alonso, L.G.² Fanganiello, R.D.³ Passos-Bueno, M.R.⁴

5
- 0036018139
- Sacral appendage associated with a mutation in FGFR2
- Sweeney E, Ellis I, May P (2002). Sacral appendage associated with a mutation in FGFR2. Clin Dysmorphol 11:221-222.
- (2002) Clin Dysmorphol , vol.11 , pp. 221-222
- Sweeney, E.¹ Ellis, I.² May, P.³

* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.