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A complex homozygous mutation in ABHD12 responsible for PHARC syndrome discovered with NGS and review of the literature.

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Title: A complex homozygous mutation in ABHD12 responsible for PHARC syndrome discovered with NGS and review of the literature.
Authors: Lerat, Justine1,2 justine.lerat@unilim.fr, Cintas, Pascal3, Beauvais‐Dzugan, Hélène1,4, Magdelaine, Corinne1,4, Sturtz, Franck1,4, Lia, Anne‐Sophie1,4
Source: Journal of the Peripheral Nervous System. Jun2017, Vol. 22 Issue 2, p77-84. 8p.
Database: Academic Search Ultimate
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  Data: A complex homozygous mutation in ABHD12 responsible for PHARC syndrome discovered with NGS and review of the literature.
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  Data: <searchLink fieldCode="JN" term="%22Journal+of+the+Peripheral+Nervous+System%22">Journal of the Peripheral Nervous System</searchLink>. Jun2017, Vol. 22 Issue 2, p77-84. 8p.
PLink https://search.ebscohost.com/login.aspx?direct=true&site=eds-live&db=asn&AN=123480290
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        Value: 10.1111/jns.12216
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      – Code: eng
        Text: English
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        PageCount: 8
        StartPage: 77
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      – TitleFull: A complex homozygous mutation in ABHD12 responsible for PHARC syndrome discovered with NGS and review of the literature.
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            NameFull: Lerat, Justine
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            NameFull: Cintas, Pascal
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            NameFull: Beauvais‐Dzugan, Hélène
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            NameFull: Magdelaine, Corinne
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            NameFull: Sturtz, Franck
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            NameFull: Lia, Anne‐Sophie
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              M: 06
              Text: Jun2017
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              Y: 2017
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