COL3A1 Missense Variant in a Patient Presenting With Hemoptysis

Ahsun Riaz; Juan Pablo Portocarrero; Andrew Hoel; Anjana Yeldandi; Lisa Dellefave-Castillo; James Paparello; Jane De Matte D′amico; Lisa D. Wilsbacher

doi:10.1161/CIRCGEN.121.003386

COL3A1 Missense Variant in a Patient Presenting With Hemoptysis

Ahsun Riaz, Juan Pablo Portocarrero, Andrew Hoel, Anjana Yeldandi, Lisa Dellefave-Castillo, James Paparello, Jane De Matte D′amico, Lisa D. Wilsbacher^*

^*Corresponding author for this work

Research output: Contribution to journal › Letter › peer-review

Original language	English (US)
Pages (from-to)	E003386
Journal	Circulation: Genomic and Precision Medicine
Volume	14
Issue number	5
DOIs	https://doi.org/10.1161/CIRCGEN.121.003386
State	Published - Oct 1 2021

Funding

This work was supported by the National Kidney Foundation of Illinois (to J.B. Portocarrero).

Keywords

Ehlers-Danlos syndrome
flank pain
hemoptysis
hydropneumothorax
renal artery

ASJC Scopus subject areas

Cardiology and Cardiovascular Medicine
Genetics(clinical)
Genetics

Access to Document

10.1161/CIRCGEN.121.003386

Cite this

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title = "COL3A1 Missense Variant in a Patient Presenting With Hemoptysis",

keywords = "Ehlers-Danlos syndrome, flank pain, hemoptysis, hydropneumothorax, renal artery",

author = "Ahsun Riaz and Portocarrero, {Juan Pablo} and Andrew Hoel and Anjana Yeldandi and Lisa Dellefave-Castillo and James Paparello and D′amico, {Jane De Matte} and Wilsbacher, {Lisa D.}",

note = "Funding Information: This work was supported by the National Kidney Foundation of Illinois (to J.B. Portocarrero). ",

year = "2021",

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doi = "10.1161/CIRCGEN.121.003386",

language = "English (US)",

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pages = "E003386",

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TY - JOUR

T1 - COL3A1 Missense Variant in a Patient Presenting With Hemoptysis

AU - Riaz, Ahsun

AU - Portocarrero, Juan Pablo

AU - Hoel, Andrew

AU - Yeldandi, Anjana

AU - Dellefave-Castillo, Lisa

AU - Paparello, James

AU - D′amico, Jane De Matte

AU - Wilsbacher, Lisa D.

N1 - Funding Information: This work was supported by the National Kidney Foundation of Illinois (to J.B. Portocarrero).

PY - 2021/10/1

Y1 - 2021/10/1

KW - Ehlers-Danlos syndrome

KW - flank pain

KW - hemoptysis

KW - hydropneumothorax

KW - renal artery

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U2 - 10.1161/CIRCGEN.121.003386

DO - 10.1161/CIRCGEN.121.003386

M3 - Letter

C2 - 34587764

AN - SCOPUS:85119457948

SN - 2574-8300

VL - 14

SP - E003386

JO - Circulation: Genomic and Precision Medicine

JF - Circulation: Genomic and Precision Medicine

IS - 5

ER -

COL3A1 Missense Variant in a Patient Presenting With Hemoptysis

Funding

Keywords

ASJC Scopus subject areas

Access to Document

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