Natural history of non-lethal Raine syndrome during childhood | Orphanet Journal of Rare Diseases | Full Text

Natural history of non-lethal Raine syndrome during childhood | Orphanet Journal of Rare Diseases | Full Text

Natural history of non-lethal Raine syndrome during childhood

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 m...

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 and Gianvincenzo Zuccotti

Citation:Orphanet Journal of Rare Diseases 2020 15:93

Content type:Research

Published on: 16 April 2020

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