Expanding the phenotype for the recurrent p.Ala391Glu variant in FGFR3: Beyond crouzon syndrome and acanthosis nigricans
Abstract Background Craniosynostosis, or premature fusion of the skull sutures, is a group of disorders that can present in isolation (nonsyndromic) or be associated with other anomalies (syndromic). Delineation of syndromic craniosynostosis is confounded due to phenotypic overlap, variable expressi...
| প্রধান লেখক: | , , , , , , |
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| বিন্যাস: | প্রবন্ধ |
| ভাষা: | English |
| প্রকাশিত: |
Wiley
2019-06-01
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| মালা: | Molecular Genetics & Genomic Medicine |
| বিষয়গুলি: | |
| অনলাইন ব্যবহার করুন: | https://doi.org/10.1002/mgg3.656 |