A case of Raine syndrome presenting with facial dysmorphy and review of literature

BACKGROUND: Raine syndrome (RS) – an extremely rare autosomal recessive genetic disorder, is caused by a biallelic mutation in the FAM20C gene. Some of the most common clinical features include generalized osteosclerosis with a periosteal bone formation, dysmorphic face, and thoracic hypoplasia. Man...

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Detalles Bibliográficos
Autores principales: Sheth, Jayesh, Bhavsar, Riddhi, Gandhi, Ajit, Sheth, Frenny, Pancholi, Dhairya
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2018
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5948820/
https://www.ncbi.nlm.nih.gov/pubmed/29751744
http://dx.doi.org/10.1186/s12881-018-0593-x

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5948820/
https://www.ncbi.nlm.nih.gov/pubmed/29751744
http://dx.doi.org/10.1186/s12881-018-0593-x

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