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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...
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| Hlavní autoři: | , , , , , , |
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| Médium: | Artigo |
| Jazyk: | Inglês |
| Vydáno: |
Wiley
2019-06-01
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| Edice: | Molecular Genetics & Genomic Medicine |
| Témata: | |
| On-line přístup: | https://doi.org/10.1002/mgg3.656 |
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