Updated recommendations for CFTR carrier screening: A position statement of the American College of Medical Genetics and Genomics (ACMG)

被引：7

作者：

Deignan, Joshua L. ^{[1
]}

Gregg, Anthony R. ^{[2
]}

Grody, Wayne W. ^{[1
,3
,4
]}

Guo, Michael H. ^{[5
]}

Kearney, Hutton ^{[6
]}

Monaghan, Kristin G. ^{[7
]}

Raraigh, Karen S. ^{[8
]}

Taylor, Jennifer ^{[9
]}

Zepeda-Mendoza, Cinthya J. ^{[10
]}

机构：

[1] UCLA, David Geffen Sch Med, Dept Pathol & Lab Med, Los Angeles, CA 90095 USA

[2] Prisma Hlth, Dept Obstet & Gynecol, Div Maternal Fetal Med, Columbia, SC USA

[3] UCLA, David Geffen Sch Med, Dept Pediat, Los Angeles, CA USA

[4] UCLA, David Geffen Sch Med, Dept Human Genet, Los Angeles, CA USA

[5] Univ Penn, Perelman Sch Med, Dept Neurol, Philadelphia, PA USA

[6] Mayo Clin, Div Lab Genet & Genom, Rochester, MN USA

[7] GeneDx LLC, Gaithersburg, MD USA

[8] Johns Hopkins Univ, McKusick Nathans Dept Genet Med, Sch Med, Baltimore, MD USA

[9] Amer Coll Med Genet & Genom, Bethesda, MD 20814 USA

[10] Mayo Clin, Dept Lab Med & Pathol, Rochester, MN USA

[11] Univ Texas Austin, Dell Med Sch, Dept Pediat, Div Genet, Austin, TX USA

来源：

GENETICS IN MEDICINE | 2023年 / 25卷 / 08期

关键词：

CFTR; Cysticfibrosis; Pancreatitis; Screening; Variant; VARIANTS; MUTATION;

D O I：

10.1016/j.gim.2023.100867

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

[No abstract available]

引用

页数：8

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