Article
Pfeiffer syndrome with FGFR2 C342R mutation presenting extreme proptosis, craniosynostosis, hearing loss, ventriculomegaly, broad great toes and thumbs, maxillary hypoplasia, and laryngomalacia.
Taiwanese journal of obstetrics & gynecology - 1 Jun 2017
Chen Chih-Ping, Lin Shuan-Pei, Liu Yu-Peng, Chern Schu-Rern, Chen Shin-Wen, Lai Shih-Ting, Wang Wayseen
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