Mosaic overgrowth with fibroadipose hyperplasia due to AKT1 mutation.

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In vitro efficacy of ARQ 092, an allosteric AKT inhibitor, on primary fibroblast cells derived from patients with PIK3CA-related overgrowth spectrum (PROS).

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Q52726054-38B11562-97F5-40CF-BB95-A1F47BB1EE9E

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Mosaic overgrowth with fibroadipose hyperplasia due to AKT1 mutation.

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Mosaic overgrowth with fibroadipose hyperplasia due to AKT1 mutation.

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Mosaic overgrowth with fibroadipose hyperplasia due to AKT1 mutation.

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Mosaic overgrowth with fibroadipose hyperplasia due to AKT1 mutation.

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Mosaic overgrowth with fibroadipose hyperplasia due to AKT1 mutation.

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Mosaic overgrowth with fibroadipose hyperplasia due to AKT1 mutation.

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Mosaic overgrowth with fibroadipose hyperplasia due to AKT1 mutation.

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Mosaic overgrowth with fibroadipose hyperplasia due to AKT1 mutation.

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Chiharu Torii

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Kenichiro Hata

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Kenjiro Kosaki

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Rika Kosaki

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Toshiki Takenouchi

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Yoshiaki Sakamoto

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P2860

A mosaic activating mutation in AKT1 associated with the Proteus syndrome

Somatic mosaic activating mutations in PIK3CA cause CLOVES syndrome

De novo germline and postzygotic mutations in AKT3, PIK3R2 and PIK3CA cause a spectrum of related megalencephaly syndromes

Mosaic overgrowth with fibroadipose hyperplasia is caused by somatic activating mutations in PIK3CA

Proteus syndrome review: molecular, clinical, and pathologic features

De novo somatic mutations in components of the PI3K-AKT3-mTOR pathway cause hemimegalencephaly.

A limited form of proteus syndrome with bilateral plantar cerebriform collagenomas and varicose veins secondary to a mosaic AKT1 mutation.

PIK3CA activating mutations in facial infiltrating lipomatosis.

Somatic gain-of-function mutations in PIK3CA in patients with macrodactyly.

Activating PIK3CA somatic mutation in congenital unilateral isolated muscle overgrowth of the upper extremity.

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907-909

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scholarly article

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10.1002/AJMG.A.36947

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English

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167A

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2015-03-03T00:00:00Z

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25737399

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Mosaic overgrowth with fibroadipose hyperplasia due to AKT1 mutation.

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P2860

P2860

Mosaic overgrowth with fibroadipose hyperplasia due to AKT1 mutation.

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P1433

P1476

P2093

P2860

P304

P31

P356

P407

P433

P478

P577

P698

P356

P1433

P1476

P2093

P2860

P304

P31

P356

P407

P433

P478

P577

P698