Tags

Type your tag names separated by a space and hit enter

FGFR2 mutation in a patient with Apert syndrome associated with humeroradial synostosis.
Congenit Anom (Kyoto). 2003 Dec; 43(4):302-5.CA

Abstract

Most cases of Apert syndrome are due to S252W or P253R mutations in the fibroblast growth factor receptor 2 (FGFR2) gene. Differences in the effects of S252W and P253R mutations on the clinical features of Apert syndrome have been studied, but little is known about the type of FGFR2 mutation in Apert syndrome with humeroradial synostosis. To study a correlation between the FGFR2 mutations and the clinical complications, we examined the FGFR2 gene in a patient with Apert syndrome associated with humeroradial synostosis, and found that the mutation was S252W. This report suggested that S252W mutation in FGFR2 may cause humeroradial synostosis in Apert syndrome.

Authors+Show Affiliations

Department of Orthopaedic Surgery, Yamagata University School of Medicine, Iida-Nishi, Yamagata, Japan. yumikanauchi@aol.comNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info available

Pub Type(s)

Journal Article

Language

eng

PubMed ID

15041782

Citation

Kanauchi, Yumiko, et al. "FGFR2 Mutation in a Patient With Apert Syndrome Associated With Humeroradial Synostosis." Congenital Anomalies, vol. 43, no. 4, 2003, pp. 302-5.
Kanauchi Y, Muragaki Y, Ogino T, et al. FGFR2 mutation in a patient with Apert syndrome associated with humeroradial synostosis. Congenit Anom (Kyoto). 2003;43(4):302-5.
Kanauchi, Y., Muragaki, Y., Ogino, T., Takahara, M., Tsuchida, H., & Ishigaki, D. (2003). FGFR2 mutation in a patient with Apert syndrome associated with humeroradial synostosis. Congenital Anomalies, 43(4), 302-5.
Kanauchi Y, et al. FGFR2 Mutation in a Patient With Apert Syndrome Associated With Humeroradial Synostosis. Congenit Anom (Kyoto). 2003;43(4):302-5. PubMed PMID: 15041782.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - FGFR2 mutation in a patient with Apert syndrome associated with humeroradial synostosis. AU - Kanauchi,Yumiko, AU - Muragaki,Yasuteru, AU - Ogino,Toshihiko, AU - Takahara,Masatoshi, AU - Tsuchida,Hiroyuki, AU - Ishigaki,Daisuke, PY - 2004/3/26/pubmed PY - 2004/6/21/medline PY - 2004/3/26/entrez SP - 302 EP - 5 JF - Congenital anomalies JO - Congenit Anom (Kyoto) VL - 43 IS - 4 N2 - Most cases of Apert syndrome are due to S252W or P253R mutations in the fibroblast growth factor receptor 2 (FGFR2) gene. Differences in the effects of S252W and P253R mutations on the clinical features of Apert syndrome have been studied, but little is known about the type of FGFR2 mutation in Apert syndrome with humeroradial synostosis. To study a correlation between the FGFR2 mutations and the clinical complications, we examined the FGFR2 gene in a patient with Apert syndrome associated with humeroradial synostosis, and found that the mutation was S252W. This report suggested that S252W mutation in FGFR2 may cause humeroradial synostosis in Apert syndrome. SN - 0914-3505 UR - https://www.unboundmedicine.com/medline/citation/15041782/FGFR2_mutation_in_a_patient_with_Apert_syndrome_associated_with_humeroradial_synostosis_ L2 - https://onlinelibrary.wiley.com/resolve/openurl?genre=article&sid=nlm:pubmed&issn=0914-3505&date=2003&volume=43&issue=4&spage=302 DB - PRIME DP - Unbound Medicine ER -