Natural history of non-lethal Raine syndrome during childhood

BACKGROUND: Raine syndrome (RS) is a rare autosomal recessive disorder caused by biallelic loss-of-function mutations of FAM20C. The most common clinical features are microcephaly, exophthalmos, hypoplastic nose and severe midface hypoplasia, leading to choanal atresia. The radiological findings inc...

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Detalles Bibliográficos
Autores principales: Mameli, Chiara, Zichichi, Giulia, Mahmood, Nasim, Elalaoui, Siham Chafai, Mirza, Adnan, Dharmaraj, Poonam, Burrone, Marco, Cattaneo, Elisa, Sheth, Jayesh, Gandhi, Ajit, Kochar, Gurpreet Singh, Alkuraya, Fowzan Sami, Kabra, Madhulika, Mercurio, Giuseppe, Zuccotti, Gianvincenzo
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2020
Materias:
Research
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7164176/
https://www.ncbi.nlm.nih.gov/pubmed/32299476
http://dx.doi.org/10.1186/s13023-020-01373-0

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