Looking closely at overgrowth: Constitutional mosaicism in PTEN hamartoma tumor syndrome

Clin Genet. 2022 Dec;102(6):557-559. doi: 10.1111/cge.14202. Epub 2022 Aug 3.

Authors

Haley Newman¹, Jessica M Long², Kristin Zelley¹, Sarah Baldino¹, Marilyn M Li³, Kara N Maxwell^{2

4}, Suzanne P MacFarland^{1

4}

Affiliations

¹ Department of Pediatrics, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.
² Department of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania, USA.
³ Department of Pathology and Laboratory Medicine, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.
⁴ Perelman School of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania, USA.

No abstract available

Publication types

Letter

MeSH terms

Hamartoma Syndrome, Multiple*
Humans
Mosaicism
PTEN Phosphohydrolase / genetics
Phenotype

Substances

PTEN Phosphohydrolase
PTEN protein, human

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