Low-level mosaicism in tuberous sclerosis complex: prevalence, clinical features, and risk of disease transmission-Reference-Cited by-同舟云学术

Low-level mosaicism in tuberous sclerosis complex: prevalence, clinical features, and risk of disease transmission

Published:2019-11 Issue:11 Volume:21 Page:2639-2643
ISSN:1098-3600
Container-title:Genetics in Medicine
language:en
Short-container-title:Genetics in Medicine

Author:

Giannikou Krinio,Lasseter Kathryn D.,Grevelink Joannes M.,Tyburczy Magdalena E.,Dies Kira A.,Zhu Zachary,Hamieh Lana,Wollison Bruce M.,Thorner Aaron R.,Ruoss Stephen J.,Thiele Elizabeth A.,Sahin Mustafa,Kwiatkowski David J.

Publisher

Elsevier BV

Subject

Genetics (clinical)

Link

https://www.nature.com/articles/s41436-019-0562-6.pdf

Reference21 articles.

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2. De S. Somatic mosaicism in healthy human tissues. Trends Genet. 2011;27:217–223.

3. Halvorsen M, Petrovski S, Shellhaas R, et al. Mosaic mutations in early-onset genetic diseases. Genet Med. 2016;18:746–749.

4. Lim YH, Moscato Z, Choate KA. Mosaicism in Cutaneous Disorders. Annu Rev Genet. 2017;51:123–141.

5. Campbell IM, Shaw CA, Stankiewicz P, Lupski JR. Somatic mosaicism: implications for disease and transmission genetics. Trends Genet. 2015;31:382–392.

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