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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| Hoofdauteurs: | , , , , , , |
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| Formaat: | Artigo |
| Taal: | Inglês |
| Gepubliceerd in: |
Wiley
2019-06-01
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| Reeks: | Molecular Genetics & Genomic Medicine |
| Onderwerpen: | |
| Online toegang: | https://doi.org/10.1002/mgg3.656 |
| Tags: |
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