Unusual Stüve-Wiedemann syndrome with complete maternal chromosome 5 isodisomy

A woman was isozygous for a novel mutation in the leukemia inhibitory factor receptor gene (LIFR) (c.2170C>G; p.Pro724Ala) which disrupts LIFR downstream signaling and results in Stüve-Wiedemann syndrome (STWS). She inherited two identical chromosomes 5 from her mother, heterozygous for the LIFR...

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Detalhes bibliográficos
Publicado no:Ann Clin Transl Neurol
Main Authors: Melone, Mariarosa A B, Pellegrino, Michael J, Nolano, Maria, Habecker, Beth A, Johansson, Stefan, Nathanson, Neil M, Knappskog, Per M, Hahn, Angelika F, Boman, Helge
Formato: Artigo
Idioma:Inglês
Publicado em: BlackWell Publishing Ltd 2014
Assuntos:
Brief Communications
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC4265064/
https://ncbi.nlm.nih.gov/pubmed/25540807
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/acn3.126
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