Clinical features and molecular genetic analysis of...

Experimental and Molecular Pathology 2019 / 12 Vol. 111

Clinical features and molecular genetic analysis of thanatophoric dysplasia type I in a neonate with a de novo c.2419 T > C (p. Ter807Arg) (X807R) mutation in FGFR3

Jiang, Gaoli, Chen, Xuexin, Dai, Dan, Cao, Li, Qian, Liling
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Volume:
111
Language:
english
Journal:
Experimental and Molecular Pathology
DOI:
10.1016/j.yexmp.2019.104297
Date:
December, 2019
File:
PDF, 1.17 MB
english, 2019
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