New recessive truncating mutation in
LTBP3
in a family with oligodontia, short stature, and mitral valve prolapse
Dugan, Sarah L.; Temme, Renee T.; Olson, Rebecca A.; Mikhailov, Anna; Law, Rosalind; Mahmood, Huda; Noor, Abdul; Vincent, John B.
- 期刊名称American Journal of Medical Genetics Part A
- 作者Dugan, Sarah L.; Temme, Renee T.; Olson, Rebecca A.; Mikhailov, Anna; Law, Rosalind; Mahmood, Huda; Noor, Abdul; Vincent, John B.
- 卷第167卷
- 期第6期
- 印刷ISSN1552-4825
- 文件大小772.73KB
- 发表时间2015-06
- DOI10.1002/ajmg.a.37049
- 页码1396-1399