Tissue‐specific mosaicism in hereditary hemorrhagic telangiectasia: Implications for genetic testing in families-Reference-Cited by-同舟云学术

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Tissue‐specific mosaicism in hereditary hemorrhagic telangiectasia: Implications for genetic testing in families

Published:2018-05-07 Issue:7 Volume:176 Page:1618-1621
ISSN:1552-4825
Container-title:American Journal of Medical Genetics Part A
language:en
Short-container-title:Am J Med Genet

Author:

McDonald Jamie¹^ORCID,Wooderchak‐Donahue Whitney L.²,Henderson Katharine³,Paul Eleri²,Morris Ashley²,Bayrak‐Toydemir Pinar²⁴

Affiliation:

1. Department of Pathology and RadiologyUniversity of UtahSalt Lake CityUtah

2. ARUP Institute for Clinical and Experimental PathologyUniversity of UtahSalt Lake CityUtah

3. HHT and Vascular Malformation Program, Department of Radiology and Biomedical ImagingYale UniversityNew Haven Connecticut

4. Department of PathologyUniversity of UtahSalt Lake CityUtah

Funder

ARUP Institute for Clinical and Experimental Pathology

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/ajmg.a.38695

Reference12 articles.

1. Mosaic ACVRL1 and ENG mutations in hereditary haemorrhagic telangiectasia patients

2. A genomic view of mosaicism and human disease

3. Somatic mosaicism: implications for disease and transmission genetics

4. ACVRL1 germinal mosaic with two mutant alleles in hereditary hemorrhagic telangiectasia associated with pulmonary arterial hypertension

5. SMAD4 mutations found in unselected HHT patients

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2. Specifications of the ACMG/AMP Variant Curation Guidelines for Hereditary Hemorrhagic Telangiectasia Genes—ENG and ACVRL1;Human Mutation;2024-05-18

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