PIK3CA-associated developmental disorders exhibit distinct classes of mutations with variable expression and tissue distribution.
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New insights into the generation and role of de novo mutations in health and diseaseHypoinsulinaemic, hypoketotic hypoglycaemia due to mosaic genetic activation of PI3-kinase.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.Mutations in Epigenetic Regulation Genes Are a Major Cause of Overgrowth with Intellectual Disability.Mutations of AKT3 are associated with a wide spectrum of developmental disorders including extreme megalencephaly.Identification of mutations in the PI3K-AKT-mTOR signalling pathway in patients with macrocephaly and developmental delay and/or autism.Causal somatic mutations in urine DNA from persons with the CLOVES subgroup of the PIK3CA Related Overgrowth Spectrum (PROS).Unilateral vestibular schwannoma and meningiomas in a patient with PIK3CA-related segmental overgrowth: Co-occurrence of mosaicism for 2 rare disorders.Mosaic RAS/MAPK variants cause sporadic vascular malformations which respond to targeted therapy.Somatic PIK3CA mutations in seven patients with PIK3CA-related overgrowth spectrum.Cancer-Associated PIK3CA Mutations in Overgrowth DisordersClinical pitfalls in the diagnosis of segmental overgrowth syndromes: a child with the c.2740G > A mutation in PIK3CA geneUpper limb muscle overgrowth with hypoplasia of the index finger: a new over-growth syndrome caused by the somatic PIK3CA mutation c.3140A>G
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PIK3CA-associated developmental disorders exhibit distinct classes of mutations with variable expression and tissue distribution.
description
article científic
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article scientifique
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articolo scientifico
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artigo científico
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bilimsel makale
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scientific article published on June 2016
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vedecký článok
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vetenskaplig artikel
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videnskabelig artikel
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vědecký článek
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name
PIK3CA-associated developmenta ...... ssion and tissue distribution.
@en
PIK3CA-associated developmenta ...... ssion and tissue distribution.
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type
label
PIK3CA-associated developmenta ...... ssion and tissue distribution.
@en
PIK3CA-associated developmenta ...... ssion and tissue distribution.
@nl
prefLabel
PIK3CA-associated developmenta ...... ssion and tissue distribution.
@en
PIK3CA-associated developmenta ...... ssion and tissue distribution.
@nl
P2093
P2860
P50
P1433
P1476
PIK3CA-associated developmenta ...... ssion and tissue distribution.
@en
P2093
Aditi Shah Parikh
Agustina Lanoel
Andrew E Timms
Angeline Hwei Meeng Lai
Anne Goriely
Beth Martin
Bridget C O'Connor
Carissa Olds
Catherine E Keegan
Charles E Schwartz
P2860
P356
10.1172/JCI.INSIGHT.87623
P577
2016-06-01T00:00:00Z