Open AccessA De Novo PTEN Pathogenic Variant in a Young Girl with Sporadic Cowden Syndrome—A Case Report
Author(s) -
Paulina Gebhart,
Christian F. Singer,
Daniela Muhr,
Christina Stein,
Yen Y. Tan
Publication year - 2025
Publication title -
pediatric reports
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.297
H-Index - 19
ISSN - 2036-7503
DOI - 10.3390/pediatric17030054
Subject(s) - pten , girl , medicine , cowden syndrome , genetics , cancer research , bioinformatics , pi3k/akt/mtor pathway , biology , signal transduction
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