Novel Germline ZCCHC8 Mutations Causes Dyskeratosis Congenita with Genetic Rescue By Uniparental Disomy of Chromosome 12q

被引：0

作者：

Donaires, Flavia S. ^{[1
]}

de Tocqueville, Sophie ^{[2
]}

Catto, Marilia Bazzo ^{[1
]}

Catto, Luiz Fernando Bazzo ^{[3
]}

Groarke, Emma M. ^{[4
]}

Santana, Barbara A. ^{[5
]}

Chandrasekharappa, Settara C. ^{[6
]}

Donovan, Frank X. ^{[6
]}

Halfon-Domenech, Carine ^{[7
]}

Young, Neal S. ^{[4
]}

Kannengiesser, Caroline ^{[8
]}

Calado, Rodrigo T. ^{[9
]}

Revy, Patrick ^{[10
]}

Gutierrez-Rodrigues, Fernanda ^{[4
]}

机构：

[1] Univ Sao Paulo, Ribeirao Preto Med Sch, Dept Med Imaging Hematol & Oncol, Ribeirao Preto, Brazil

[2] Imagine Inst, Lab Genome Dynam Immune Syst, Labellise Ligue Natl Canc, Paris, France

[3] Natl Heart Lung & Blood Inst, Natl Heart Lung & Blood Inst, Bethesda, MD USA

[4] NHLBI, NIH, Hematol Branch, Bethesda, MD USA

[5] Univ Sao Paulo, Ribeirao Preto Med Sch, Dept Med Imaging Hematol & Oncol, Ribeirao Preto, Brazil

[6] Natl Human Genome Res Inst, NIH, Canc Genet & Comparat Genom Branch, Canc Genom Unit, Bethesda, MD USA

[7] Inst Hematol & Oncol Pediat, Lyon, France

[8] Assistance Publ Hop Paris, Paris, France

[9] Univ Sao Paulo, Escola Enfermagem Riberao Preto, BR-14020610 Ribeirao Preto, Brazil

[10] Inst Imagine, Paris, France

来源：

关键词：

D O I：

10.1182/blood-2024-205711

中图分类号：

R5 [内科学];

学科分类号：

1002 ; 100201 ;

摘要：

引用

页码：1330 / 1331

页数：2