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Freeman–Sheldon Syndrome: First Molecularly Confirmed Case from Sub-Saharan Africa

We report a case of a male baby who has characteristic signs of Freeman–Sheldon syndrome, a rare but recognizable, severe autosomal dominant form of distal arthrogryposis. Diagnosis was based on the distinctive clinical characteristics of the syndrome and confirmed by genetic analysis that showed a...

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Detalles Bibliográficos
Autores principales:	Ali, A. M., Mbwasi, R. M., Kinabo, G., Kamsteeg, E.-J., Hamel, B. C., Dekker, M. C. J.
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Hindawi 2017
Materias:	Case Report
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5443993/ https://www.ncbi.nlm.nih.gov/pubmed/28584669 http://dx.doi.org/10.1155/2017/9327169

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