Diagnosis of Bloom Syndrome in a Patient with Short Stature, Recurrence of Malignant Lymphoma, and Consanguineous Origin-Reference-Cited by-同舟云学术

Diagnosis of Bloom Syndrome in a Patient with Short Stature, Recurrence of Malignant Lymphoma, and Consanguineous Origin

Published:2020 Issue:2 Volume:11 Page:73-82
ISSN:1661-8769
Container-title:Molecular Syndromology
language:en
Short-container-title:Mol Syndromol

Author:

Trizuljak Jakub,Petruchová Terezie,Blaháková Ivona,Vrzalová Zuzana,Hořínová Věra,Doubková Martina,Michalka Jozef,Mayer Jiří,Pospíšilová Šárka,Doubek Michael

Publisher

S. Karger AG

Subject

Genetics (clinical),Genetics

Reference24 articles.

1. Arora H, Chacon AH, Choudhary S, McLeod MP, Meshkov L, et al: Bloom syndrome. Int J Dermatol 53: 798-802 (2014).

2. Berger C, Frappaz D, Leroux D, Blez F, Vercherat M, et al: Wilms tumor and Bloom syndrome (in French). Arch Pediatr 3:802-805 (1996).

3. Cairney AE, Andrews M, Greenberg M, Smith D, Weksberg R: Wilms tumor in three patients with Bloom syndrome. J Pediatr 111:414-416 (1987).

4. Cunniff C, Bassetti JA, Ellis NA: Bloom's syndrome: clinical spectrum, molecular pathogenesis, and cancer predisposition. Mol Syndromol 8:4-23 (2017).

5. Cunniff C, Djavid AR, Carrubba S, Cohen B, Ellis NA, et al: Health supervision for people with Bloom syndrome. Am J Med Genet A 176:1872-1881 (2018).

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