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Article

Mosaic Variant in Unilateral Woolly Hair in a Girl With PIK3CA-Related Overgrowth Spectrum.

Congenital anomalies - 1 Jan 2026

Tanaka Ryosuke, Takeguchi Ryo, Akaba Yuichi, Ono Yusuke, Mizukami Yusuke, Takahashi Satoru

Abstract excerpt

The phosphatidylinositol-3-kinase (PI3K)-AKT-mTOR pathway plays a central role in cellular growth and survival, and somatic activating variants in PIK3CA cause PIK3CA-related overgrowth spectrum (PROS). Because these variants arise postzygotically, affected individuals exhibit somatic mosaicism, making molecular diagnosis challenging, particularly when only peripheral blood is available. We report an infant with...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 42230161
DOI: 10.1002/cga.70066
PMCID: PMC13422646

Genes

PIK3CA

Variants

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026.

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Mosaic Variant in Unilateral Woolly Hair in a Girl With PIK3CA-Related Overgrowth Spectrum.PMID 42230161Read ↗

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PIK3CA-associated developmental disorders exhibit distinct classes of mutations with variable expression and tissue distribution.Semantic proximity Read ↗

Molecular characterization of 13 patients with PIK3CA-related overgrowth spectrum using a targeted deep sequencing approach.Semantic proximity Read ↗

Current Status of Genetic Testing and Mosaic Variant Assessment in Somatic Overgrowth and Vascular Anomalies: Insights from the Cancer Genomics Consortium Working GroupSemantic proximity Read ↗

Non-hotspot PIK3CA mutations are more frequent in CLOVES than in common or combined lymphatic malformations.Semantic proximity Read ↗

Overgrowth Syndromes Caused by Somatic Variants in the Phosphatidylinositol 3-Kinase/AKT/Mammalian Target of Rapamycin Pathway.Semantic proximity Read ↗

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Urine cell-free DNA is a biomarker for nephroblastomatosis or Wilms tumor in PIK3CA-related overgrowth spectrum (PROS).Semantic proximity Read ↗

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