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.
MeSH
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 -