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Molecular diagnosis of Apert syndrome in Chinese patients.
Acta Paediatr Taiwan. 1999 Jan-Feb; 40(1):31-3.AP

Abstract

Apert syndrome is a clinically distinct condition characterized by craniosynostosis and severe syndactyly of the hands and the feet. Apert syndrome results from either of two specific nucleotide substitutions, both C-to-G transversions, in the fibroblast growth factor receptor 2 (FGFR2) gene. To determine if Chinese Apert syndrome patients carry the same mutations, fifteen unrelated Apert syndrome patients and a fetus from a mother with Apert syndrome were studied by the use of restriction analysis and direct sequencing. The results demonstrated that 13 had the Ser252Trp mutation and 2 had the Pro253Arg mutation. Prenatal diagnosis of the fetus was successfully made.

Authors+Show Affiliations

Department of Pediatrics, China Medical College Hospital, Taichung, Taiwan.No affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info available

Pub Type(s)

Journal Article
Research Support, Non-U.S. Gov't

Language

eng

PubMed ID

10910582

Citation

Tsai, F J., et al. "Molecular Diagnosis of Apert Syndrome in Chinese Patients." Acta Paediatrica Taiwanica = Taiwan Er Ke Yi Xue Hui Za Zhi, vol. 40, no. 1, 1999, pp. 31-3.
Tsai FJ, Tsai CH, Peng CT, et al. Molecular diagnosis of Apert syndrome in Chinese patients. Acta Paediatr Taiwan. 1999;40(1):31-3.
Tsai, F. J., Tsai, C. H., Peng, C. T., Lin, S. P., Hwu, W. L., Wang, T. R., Lee, C. C., & Wu, J. Y. (1999). Molecular diagnosis of Apert syndrome in Chinese patients. Acta Paediatrica Taiwanica = Taiwan Er Ke Yi Xue Hui Za Zhi, 40(1), 31-3.
Tsai FJ, et al. Molecular Diagnosis of Apert Syndrome in Chinese Patients. Acta Paediatr Taiwan. 1999 Jan-Feb;40(1):31-3. PubMed PMID: 10910582.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Molecular diagnosis of Apert syndrome in Chinese patients. AU - Tsai,F J, AU - Tsai,C H, AU - Peng,C T, AU - Lin,S P, AU - Hwu,W L, AU - Wang,T R, AU - Lee,C C, AU - Wu,J Y, PY - 2000/7/27/pubmed PY - 2000/7/27/medline PY - 2000/7/27/entrez SP - 31 EP - 3 JF - Acta paediatrica Taiwanica = Taiwan er ke yi xue hui za zhi JO - Acta Paediatr Taiwan VL - 40 IS - 1 N2 - Apert syndrome is a clinically distinct condition characterized by craniosynostosis and severe syndactyly of the hands and the feet. Apert syndrome results from either of two specific nucleotide substitutions, both C-to-G transversions, in the fibroblast growth factor receptor 2 (FGFR2) gene. To determine if Chinese Apert syndrome patients carry the same mutations, fifteen unrelated Apert syndrome patients and a fetus from a mother with Apert syndrome were studied by the use of restriction analysis and direct sequencing. The results demonstrated that 13 had the Ser252Trp mutation and 2 had the Pro253Arg mutation. Prenatal diagnosis of the fetus was successfully made. SN - 1608-8115 UR - https://www.unboundmedicine.com/medline/citation/10910582/Molecular_diagnosis_of_Apert_syndrome_in_Chinese_patients_ L2 - http://www.diseaseinfosearch.org/result/544 DB - PRIME DP - Unbound Medicine ER -