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Public Health Genomics and Precision Health Knowledge Base (v9.0)
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Precision Health Database|Search|Public Health Genomics and Precision Health Knowledge Base (PHGKB)
Rare Diseases
Last data update: May 18, 2024
. (Total: 63881 Documents since 2012)
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Birt-Hogg-Dubé Syndrome and Hereditary Leiomyomatosis and Renal Cell Carcinoma Syndrome: An Effective Multidisciplinary Approach to Hereditary Renal Cancer Predisposing Syndromes.
Al-Shinnag Mohammad et al. Frontiers in oncology 2021 11738822
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Hereditary Leiomyomatosis and Renal Cell Cancer Syndrome in Spain: Clinical and Genetic Characterization.
Sánchez-Heras A Beatriz et al. Cancers 2020 Nov 12(11)
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CLINGEN Actionability Report for Familial papillary renal cell carcinoma 1 - MET
ClinGen Actionability Working Group
CLINGEN Actionability Report for Hereditary Leiomyomatosis and Renal Cell Cancer - FH
ClinGen Actionability Working Group
Clinical and morphologic review of 60 hereditary renal tumors from 30 hereditary renal cell carcinoma syndrome patients: lessons from a contemporary single institution series.
Kennedy John M et al. Medical oncology (Northwood, London, England) 2019 Jul 36(9) 74
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A retrospective review of 48 individuals, including 12 families, molecularly diagnosed with hereditary leiomyomatosis and renal cell cancer (HLRCC).
Bhola Priya T et al. Familial cancer 2018 Feb
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PTEN, DICER1, FH, and Their Associated Tumor Susceptibility Syndromes: Clinical Features, Genetics, and Surveillance Recommendations in Childhood.
Schultz Kris Ann P et al. Clinical cancer research : an official journal of the American Association for Cancer Research 2017 Jun 23(12) e76-e82
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Page last reviewed:
Feb 1, 2024
Page last updated:
May 18, 2024
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Public Health Genomics Branch in the Division of Blood Disorders and Public Health Genomics
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National Center on Birth Defects and Developmental Disabilities
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