Natural history of non-lethal Raine syndrome during childhood

Natural history of non-lethal Raine syndrome during childhood

Abstract 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 find...

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Bibliographic Details
Main Authors: Chiara Mameli, Giulia Zichichi, Nasim Mahmood, Siham Chafai Elalaoui, Adnan Mirza, Poonam Dharmaraj, Marco Burrone, Elisa Cattaneo, Jayesh Sheth, Ajit Gandhi, Gurpreet Singh Kochar, Fowzan Sami Alkuraya, Madhulika Kabra, Giuseppe Mercurio, Gianvincenzo Zuccotti
Format: Article
Language:English
Published: BMC 2020-04-01
Series:Orphanet Journal of Rare Diseases
Subjects:
Raine syndrome
Children
Rickets
Osteosclerosis
Online Access:http://link.springer.com/article/10.1186/s13023-020-01373-0

Internet

http://link.springer.com/article/10.1186/s13023-020-01373-0

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