Expanding the phenotype for the recurrent p.Ala391Glu variant in FGFR3: Beyond crouzon syndrome and acanthosis nigricans

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 expression as we...

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Detalles Bibliográficos
Autores principales: Rymer, Karen, Shiang, Rita, Hsiung, Anting, Pandya, Arti, Bigdeli, Tim, Webb, Bradley T., Rhodes, Jennifer
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2019
Materias:
Original Articles
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6565579/
https://www.ncbi.nlm.nih.gov/pubmed/31016899
http://dx.doi.org/10.1002/mgg3.656

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6565579/
https://www.ncbi.nlm.nih.gov/pubmed/31016899
http://dx.doi.org/10.1002/mgg3.656

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