Not just a carrier: Clinical presentation and management of patients with heterozygous disease-causing alkaline phosphatase (ALPL) variants identified through expanded carrier screening
不仅仅是携带者：通过扩展携带者筛查发现的杂合致病性碱性磷酸酶 (ALPL) 变异患者的临床表现和管理
期刊:Molecular Genetics & Genomic Medicine
影响因子:1.6
doi:10.1002/mgg3.2056
Beck, Natalie M; Sagaser, Katelynn G; Lawson, Cathleen S; Hertenstein, Christine; Jachens, Ashley; Forster, Katherine R; Miller, Kristen A; Jelin, Angie C; Blakemore, Karin J; Hoover-Fong, Julie
