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Split Hand Foot Malformation Syndrome: A Novel Heterozygous FGFR1 Mutation Detected by Next Generation Sequencing

BACKGROUND: Split-hand/foot malformation syndrome is a rare, clinically and genetically het-erogeneous group of limb malformations characterized by absence/hypoplasia and/or median cleft of hands and/or feet. It may occur as an isolated abnormality or it may be associated with a genetic syn-drome. C...

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Detalles Bibliográficos
Autores principales:	Papasozomenou, Panayiota, Papoulidis, Ioannis, Mikos, Themistoklis, Zafrakas, Menelaos
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Bentham Science Publishers 2019
Materias:	Article
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6935954/ https://www.ncbi.nlm.nih.gov/pubmed/31929729 http://dx.doi.org/10.2174/1389202920666190530092856

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