Sequence variation in PPP1R13L results in a novel form of cardio‐cutaneous syndrome

Sequence variation in PPP1R13L results in a novel form of cardio‐cutaneous syndrome

Abstract Dilated cardiomyopathy (DCM) is a life‐threatening disorder whose genetic basis is heterogeneous and mostly unknown. Five Arab Christian infants, aged 4–30 months from four families, were diagnosed with DCM associated with mild skin, teeth, and hair abnormalities. All passed away before age...

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Main Authors: Tzipora C Falik‐Zaccai, Yiftah Barsheshet, Hanna Mandel, Meital Segev, Avraham Lorber, Shachaf Gelberg, Limor Kalfon, Shani Ben Haroush, Adel Shalata, Liat Gelernter‐Yaniv, Sarah Chaim, Dorith Raviv Shay, Morad Khayat, Michal Werbner, Inbar Levi, Yishay Shoval, Galit Tal, Stavit Shalev, Eli Reuveni, Emily Avitan‐Hersh, Eugene Vlodavsky, Liat Appl‐Sarid, Dorit Goldsher, Reuven Bergman, Zvi Segal, Ora Bitterman‐Deutsch, Orly Avni
Format: Article
Language:English
Published: Springer Nature 2017-01-01
Series:EMBO Molecular Medicine
Subjects:
dilated cardiomyopathy
genetics
inflammation
myocarditis
PPP1R13L
Online Access:https://doi.org/10.15252/emmm.201606523
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