Spontaneous remission in a Diamond-Blackfan anaemia patient due to a revertant uniparental disomy ablating a de novo RPS19 mutation

被引：17

作者：

Garelli, Emanuela ^{[1
]}

Quarello, Paola ^{[2
]}

Giorgio, Elisa ^{[3
]}

Carando, Adriana ^{[1
]}

Menegatti, Elisa ^{[4
,5
]}

Mancini, Cecilia ^{[3
]}

Di Gregorio, Eleonora ^{[4
]}

Crescenzio, Nicoletta ^{[1
]}

Palumbo, Orazio ^{[6
]}

Carella, Massimo ^{[6
]}

Dimartino, Paola ^{[7
]}

Pippucci, Tommaso ^{[8
]}

Dianzani, Irma ^{[9
]}

Ramenghi, Ugo ^{[1
]}

Brusco, Alfredo ^{[3
,4
]}

机构：

[1] Univ Turin, Dept Publ Hlth & Paediat Sci, Turin, Italy

[2] Univ Turin, Stem Cell Transplantat & Cellular Therapy Div, Paediat Oncohaematol, Regina Margherita Childrens Hosp, Turin, Italy

[3] Univ Turin, Dept Med Sci, Turin, Italy

[4] Univ Turin, Med Genet Unit, Citta Salute & Sci Hosp, Turin, Italy

[5] Univ Turin, Dept Clin & Biol Sci, Turin, Italy

[6] IRCCS Casa Sollievo Sofferenza, Div Med Genet, San Giovanni Rotondo, Italy

[7] Univ Bologna, Dept Med & Surg Sci, Bologna, Italy

[8] Polyclin St Orsola Malpighi Univ Hosp, Med Genet Unit, Bologna, Italy

[9] Univ Piemonte Orientale, Dept Hlth Sci, Novara, Italy

来源：

BRITISH JOURNAL OF HAEMATOLOGY | 2019年 / 185卷 / 05期

关键词：

Diamond-Blackfan; uniparental disomy; complete remission; revertant mosaicism; RPS19; GENE;

D O I：

10.1111/bjh.15688

中图分类号：

R5 [内科学];

学科分类号：

1002 ; 100201 ;

摘要：

引用

页码：994 / 998

页数：5

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