Yunis-Varón syndrome caused by biallelic VAC14 mutations

Yunis-Varón syndrome (YVS) is an autosomal recessive disorder comprising skeletal anomalies, dysmorphism, global developmental delay and intracytoplasmic vacuolation in brain and other tissues. All hitherto-reported pathogenic variants affect FIG4, a lipid phosphatase involved in phosphatidylinosito...

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Vydáno v:Eur J Hum Genet
Hlavní autoři: Lines, Matthew A, Ito, Yoko, Kernohan, Kristin D, Mears, Wendy, Hurteau-Miller, Julie, Venkateswaran, Sunita, Ward, Leanne, Khatchadourian, Karine, McClintock, Jeff, Bhola, Priya, Campeau, Philippe M, Boycott, Kym M, Michaud, Jean, van Kuilenburg, André BP, Ferdinandusse, Sacha, Dyment, David A
Médium: Artigo
Jazyk:Inglês
Vydáno: Nature Publishing Group 2017
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Article
On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC5558182/
https://ncbi.nlm.nih.gov/pubmed/28635952
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/ejhg.2017.99
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