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...

Descripción completa

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

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6935954/
https://www.ncbi.nlm.nih.gov/pubmed/31929729
http://dx.doi.org/10.2174/1389202920666190530092856

Ejemplares similares