Authors' contributions
XM and YGY critically revised the manuscript, contributed to the study design, analysis, and supervised
the research. YGY coordinated clinical diagnosis and collected phenotype information. LBL and TTY drafted
and critically revised the manuscript, performed the statistical analysis, and contributed to the interpretation
of the data. LLW performed the blood collection, DNA extraction, microarray and data analysis. All authors
read and approved the final manuscript.
Acknowledgments
We thank the support from the patient and the family. This study is further supported by the “Major
Program of Shanghai Committee of Science and Technology” from The Shanghai Municipal Science and
Technology Commission (No. 12411950400). And supported by the “Program of Shanghai Committee of
Science and Technology” from The Shanghai Municipal Science and Technology Commission (No.
124119a2601); Health Science grant from the social development branch of Pudong New District
(PKJ2012-Y47) to YYG.
We thank Dr. Yiping Shen for providing clinical and molecular diagnosis for this patient.
References