Expanding the clinical and genetic spectrum of ALPK3 variants: Phenotypes identified in pediatric cardiomyopathy patients and adults with heterozygous variants

Herkert, Johanna; Verhagen, Judith; Yotti, Raquel; Haghighi, Alireza; Phelan, Dean; James, Paul; Brown, Natasha; Stutterd, Chloe; Macciocca, Ivan; Leong, Kai'En; Bulthuis, Marian; van Bever, Yolande; van Slegtenhorst, Marjon; Boven, Ludolf; Roberts, Amy; Agarwal, Radhika; Seidman, Jonathan; Lakdawala, Neal; Fernandez-Aviles, Francisco; Burke, Michael; Pierpont, Mary; Braunlin, Elizabeth; ÇAĞLAYAN, AHMET; Barge-Schaapveld, Daniela; Birnie, Erwin; Van Osch-Gevers, Lennie; van Langen, Irene; Jongbloed, Jan; Lockhart, Paul; Amor, David; Seidman, Christine; van de Laar, Ingrid

doi:10.1016/j.ahj.2020.03.023

Expanding the clinical and genetic spectrum of ALPK3 variants: Phenotypes identified in pediatric cardiomyopathy patients and adults with heterozygous variants

Herkert J. C., Verhagen J. M. A., Yotti R., Haghighi A., Phelan D. G., James P. A., ...Daha Fazla

AMERICAN HEART JOURNAL, cilt.225, ss.108-119, 2020 (SCI-Expanded, Scopus)

Yayın Türü: Makale / Tam Makale
Cilt numarası: 225
Basım Tarihi: 2020
Doi Numarası: 10.1016/j.ahj.2020.03.023
Dergi Adı: AMERICAN HEART JOURNAL
Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus, Agricultural & Environmental Science Database, BIOSIS, CAB Abstracts, CINAHL, EMBASE, International Pharmaceutical Abstracts, MEDLINE, MLA - Modern Language Association Database
Sayfa Sayıları: ss.108-119
Dokuz Eylül Üniversitesi Adresli: Evet

Özet

Introduction Biallelic damaging variants in ALPK3, encoding alpha-protein kinase 3, cause pediatric-onset cardiomyopathy with manifestations that are incompletely defined.