Pathogenicity of VHL variants in families with non-syndromic von Hippel-Lindau phenotypes: An integrated evaluation of germline and somatic genomic results-Reference-Cited by-同舟云学术

Pathogenicity of VHL variants in families with non-syndromic von Hippel-Lindau phenotypes: An integrated evaluation of germline and somatic genomic results

Published:2021-12 Issue:12 Volume:64 Page:104359
ISSN:1769-7212
Container-title:European Journal of Medical Genetics
language:en
Short-container-title:European Journal of Medical Genetics

Author:

Rana Huma Q.,Koeller Diane R.,Schwartz Alison,Manning Danielle K.,Schneider Katherine A.,Krajewski Katherine M.,Choueiri Toni K.,Lindeman Neal I.,Garber Judy E.,Ghazani Arezou A.^ORCID

Publisher

Elsevier BV

Subject

Genetics(clinical),Genetics,General Medicine

Reference50 articles.

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3. VHL c.505 T>C mutation confers a high age related penetrance but no increased overall mortality;Bender;J. Med. Genet.,2001

4. Congenital polycythemia with homozygous and heterozygous mutations of von Hippel-Lindau gene: five new Caucasian patients;Bento;Haematologica,2005

5. Prevalence, birth incidence, and penetrance of von Hippel-Lindau disease (vHL) in Denmark;Binderup;Eur. J. Hum. Genet.,2017

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