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Delayed diagnosis of Griscelli syndrome type 2 with compound heterozygote RAB27A variants presenting with pulmonary failure
Pediatric Hematology and Oncology ( IF 1.7 ) Pub Date : 2021-04-01 , DOI: 10.1080/08880018.2021.1895925
Yoav H Messinger 1 , Tamara C Pozos 2 , Anne G Griffiths 3 , William A Mize 4 , Damon R Olson 5 , Angela R Smith 6
Affiliation  

(2021). Delayed diagnosis of Griscelli syndrome type 2 with compound heterozygote RAB27A variants presenting with pulmonary failure. Pediatric Hematology and Oncology: Vol. 38, No. 6, pp. 593-601.

中文翻译:

Griscelli 综合征 2 型的延迟诊断与复合杂合子 RAB27A 变异体表现为肺衰竭

(2021 年)。Griscelli 综合征 2 型的延迟诊断与复合杂合子 RAB27A 变体呈现肺衰竭。儿科血液学和肿瘤学:卷。38,第 6 期,第 593-601 页。
更新日期:2021-04-01
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