A diagnosis of Noonan syndrome through routine whole genome sequencing in a child with an intracranial nongerminomatous germ cell tumor

IF 2.4 3区医学 Q2 HEMATOLOGY

Pediatric Blood & Cancer Pub Date : 2024-10-08 DOI:10.1002/pbc.31368

Shathar Mahmood, Sarah M. Leiter, Poe Phyu, Claudia Craven, Gail Horan, Jennifer Gains, Mayen Briggs, Esther Blanco, Sam Behjati, James Watkins, John A. Tadross, Thomas Roberts, Jamie Trotman, Patrick Tarpey, Ruth Armstrong, Matthew J. Murray

引用次数: 0

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通过常规全基因组测序确诊一名颅内非erminomatous生殖细胞瘤患儿患有努南综合征。

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来源期刊

Pediatric Blood & Cancer 医学-小儿科

CiteScore

4.90

自引率

9.40%

发文量

546

审稿时长

1.5 months

期刊介绍： Pediatric Blood & Cancer publishes the highest quality manuscripts describing basic and clinical investigations of blood disorders and malignant diseases of childhood including diagnosis, treatment, epidemiology, etiology, biology, and molecular and clinical genetics of these diseases as they affect children, adolescents, and young adults. Pediatric Blood & Cancer will also include studies on such treatment options as hematopoietic stem cell transplantation, immunology, and gene therapy.