Pfeiffer syndrome with FGFR2 C342R mutation presenting extreme proptosis, craniosynostosis, hearing loss, ventriculomegaly, broad great toes and thumbs, maxillary hypoplasia, and laryngomalacia
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| Description | scientific article published in June 2017 |
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author: Chih-Ping Chen Schu-Rern Chern Wayseen Wang Shin-Wen Chen Shih-Ting Lai Shuan-Pei Lin |
| Publication date | June 1, 2017 |
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