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Consanguinity and Double Recessive Gene Pathology

Consanguinity and Double Recessive Gene Pathology This case report describes a 1-year-old child of consanguineous birth with double recessive gene pathology, both cutis laxa (PYCR1) and nephrotic syndrome (PLCE1). http://www.deepdyve.com/assets/images/DeepDyve-Logo-lg.png JAMA Dermatology American Medical Association

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References (7)

Publisher
American Medical Association
Copyright
Copyright 2018 American Medical Association. All Rights Reserved.
ISSN
2168-6068
eISSN
2168-6084
DOI
10.1001/jamadermatol.2018.4665
Publisher site
See Article on Publisher Site

Abstract

This case report describes a 1-year-old child of consanguineous birth with double recessive gene pathology, both cutis laxa (PYCR1) and nephrotic syndrome (PLCE1).

Journal

JAMA DermatologyAmerican Medical Association

Published: Feb 26, 2019

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