Muenke syndrome: Medical and surgical comorbidities and long-term management

Muenke syndrome (MIM #602849), the most common syndromic craniosynostosis, results from the recurrent pathogenic p.P250R variant in FGFR3. Affected patients exhibit wide phenotypic variability. Common features include coronal craniosynostosis, hearing loss, carpal and tarsal anomalies, and developme...

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Dades bibliogràfiques
Publicat a:Am J Med Genet A
Autors principals: Murali, Chaya N., McDonald-McGinn, Donna M., Wenger, Tara Lynn, McDougall, Carey, Stroup, Bridget M., Sheppard, Sarah E., Taylor, Jesse, Bartlett, Scott P., Bhoj, Elizabeth J., Zackai, Elaine H., Santani, Avni
Format: Artigo
Idioma:Inglês
Publicat: 2019
Matèries:
Article
Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC6959001/
https://ncbi.nlm.nih.gov/pubmed/31111620
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/ajmg.a.61199
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