Mosaic de novo SNRPN gene variant associated with Prader-Willi syndrome

Yue Huang; Katheryn Grand; Virginia Kimonis; Merlin G Butler; Suparna Jain; Alden Yen-Wen Huang; Julian A Martinez-Agosto; Stanley F Nelson; Pedro A Sanchez-Lara

doi:10.1136/jmedgenet-2020-107674

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Mosaic de novo SNRPN gene variant associated with Prader-Willi syndrome

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Yue Huang Department of Pediatrics, Division of Medical Genetics, David Geffen School of Medicine at UCLA, Los Angeles, California, USA PubMed articles Google scholar articles
Katheryn Grand Department of Pediatrics, Cedars-Sinai Medical Center, Los Angeles, California, USA PubMed articles Google scholar articles
Virginia Kimonis Department of Pediatrics, UCI and Children’s Hospital of Orange County, Irvine, California, USA PubMed articles Google scholar articles
Merlin G Butler Departments of Psychiatry and Behavioral Sciences and Pediatrics, University of Kansas Medical Center, Kansas City, Kansas, USA PubMed articles Google scholar articles
Suparna Jain Pediatric Endocrinology, Department of Pediatrics, Cedar-Sinai Medical Center, Los Angeles, California, USA PubMed articles Google scholar articles
Alden Yen-Wen Huang Institute for Precision Health, David Geffen School of Medicine at UCLA, Los Angeles, California, USA PubMed articles Google scholar articles
Julian A Martinez-Agosto Department of Pediatrics, Division of Medical Genetics, David Geffen School of Medicine at UCLA, Los Angeles, California, USA Department of Human Genetics, David Geffen School of Medicine at UCLA, Los Angeles, California, USA PubMed articles Google scholar articles
Stanley F Nelson Department of Human Genetics, David Geffen School of Medicine at UCLA, Los Angeles, California, USA PubMed articles Google scholar articles
Pedro A Sanchez-Lara Department of Pediatrics, Cedars-Sinai Medical Center, Los Angeles, California, USA PubMed articles Google scholar articles

Correspondence to Dr Pedro A Sanchez-Lara, Department of Pediatrics, Cedars-Sinai Medical Center, Los Angeles, CA 90048, USA; Pedro.Sanchez{at}cshs.org

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Citation

Huang Y, Grand K, Kimonis V, et al

Mosaic de novo SNRPN gene variant associated with Prader-Willi syndrome

Journal of Medical Genetics 2022;59:719-722.

Publication history

Received December 28, 2020
Accepted May 11, 2021
First published June 7, 2021.

Online issue publication

June 27, 2022

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