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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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Bibliografiske detaljer
Udgivet i:Curr Genomics
Main Authors: Papasozomenou, Panayiota, Papoulidis, Ioannis, Mikos, Themistoklis, Zafrakas, Menelaos
Format: Artigo
Sprog:Inglês
Udgivet: Bentham Science Publishers 2019
Fag:
Online adgang:https://ncbi.nlm.nih.gov/pmc/articles/PMC6935954/
https://ncbi.nlm.nih.gov/pubmed/31929729
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.2174/1389202920666190530092856
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