Clinical pitfalls in the diagnosis of segmental overgrowth syndromes: a child with the c.2740G > A mutation in PIK3CA gene

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Clinical pitfalls in the diagnosis of segmental overgrowth syndromes: a child with the c.2740G > A mutation in PIK3CA gene

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http://www.wikidata.org/entity/Q58719016

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wetenschappelijk artikel

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наукова стаття, опублікована у вересні 2018

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Clinical pitfalls in the diagn ...... 0G > A mutation in PIK3CA gene

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Clinical pitfalls in the diagn ...... 0G > A mutation in PIK3CA gene

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Clinical pitfalls in the diagn ...... 0G > A mutation in PIK3CA gene

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Clinical pitfalls in the diagn ...... 0G > A mutation in PIK3CA gene

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Clinical pitfalls in the diagn ...... 0G > A mutation in PIK3CA gene

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Clinical pitfalls in the diagn ...... 0G > A mutation in PIK3CA gene

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P1476

Clinical pitfalls in the diagn ...... 0G > A mutation in PIK3CA gene

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P2093

Alice Maguolo

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Alice Spano

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Elena Fiorini

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Margherita Mauro

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Paolo Cavarzere

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Rossella Gaudino

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Silvia Maitz

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P2860

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

Overgrowth Syndromes.

Macrocephaly-cutis marmorata telangiectatica congenita: a distinct disorder with developmental delay and connective tissue abnormalities.

Macrocephaly with cutis marmorata, haemangioma and syndactyly--a distinctive overgrowth syndrome.

Germline PTPN11 and somatic PIK3CA variant in a boy with megalencephaly-capillary malformation syndrome (MCAP)--pure coincidence?

Molecular and Functional Characterization of Three Different Postzygotic Mutations in PIK3CA-Related Overgrowth Spectrum (PROS) Patients: Effects on PI3K/AKT/mTOR Signaling and Sensitivity to PIK3 Inhibitors.

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

Molecular diagnosis of PIK3CA-related overgrowth spectrum (PROS) in 162 patients and recommendations for genetic testing.

Somatic overgrowth disorders of the PI3K/AKT/mTOR pathway & therapeutic strategies.

P2888

s13052-018-0568-8

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110

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scholarly article

case report

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10.1186/S13052-018-0568-8

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English

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P478

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Gaetano Cantalupo

Paolo Biban

Franco Antoniazzi

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2018-09-19T00:00:00Z

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P6179

1107111992

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30231930

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6146629

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