Cargando…
Sequence variation in PPP1R13L results in a novel form of cardio‐cutaneous syndrome
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 3. A hom...
Autores principales: | Falik‐Zaccai, Tzipora C, Barsheshet, Yiftah, Mandel, Hanna, Segev, Meital, Lorber, Avraham, Gelberg, Shachaf, Kalfon, Limor, Ben Haroush, Shani, Shalata, Adel, Gelernter‐Yaniv, Liat, Chaim, Sarah, Raviv Shay, Dorith, Khayat, Morad, Werbner, Michal, Levi, Inbar, Shoval, Yishay, Tal, Galit, Shalev, Stavit, Reuveni, Eli, Avitan‐Hersh, Emily, Vlodavsky, Eugene, Appl‐Sarid, Liat, Goldsher, Dorit, Bergman, Reuven, Segal, Zvi, Bitterman‐Deutsch, Ora, Avni, Orly |
---|---|
Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
John Wiley and Sons Inc.
2017
|
Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5331242/ https://www.ncbi.nlm.nih.gov/pubmed/28069640 http://dx.doi.org/10.15252/emmm.201606523 |
Ejemplares similares
-
Sequence variation in PPP1R13L results in a novel form of cardio‐cutaneous syndrome
por: Falik‐Zaccai, Tzipora C, et al.
Publicado: (2017) -
A clinically validated whole genome pipeline for structural variant detection and analysis
por: Neerman, Nir, et al.
Publicado: (2019) -
Social-Stress-Responsive Microbiota Induces Stimulation of Self-Reactive Effector T Helper Cells
por: Werbner, Michal, et al.
Publicado: (2019) -
NGLY1 Deficiency Zebrafish Model Manifests Abnormalities of the Nervous and Musculoskeletal Systems
por: Mesika, Aviv, et al.
Publicado: (2022) -
Case report: Novel insights into hemorrhagic destruction of the brain, subependymal calcification, and cataracts disease
por: Abdallah Moady, Tameemi, et al.
Publicado: (2023)