Germline pathogenic variant in PIK3CA leading to symmetrical overgrowth with marked macrocephaly and mild global developmental delay

Activating pathogenic variants in PIK3CA gene usually occur at a mosaic status and underlie a variety of segmental overgrowth phenotypes. Germline variants in PIK3CA have been rarely reported, described in a total of 12 patients with macrocephaly to date. Clinical and prognostic features of these germline variants have not been described in detail yet.



Titolo: Germline pathogenic variant in PIK3CA leading to symmetrical overgrowth with marked macrocephaly and mild global developmental delay
Autori: 
RANIERI, CARLOTTA
SIMONE, CRISTIANO
RESTA, Nicoletta (Corresponding)
mostra contributor esterni 
Data di pubblicazione: 2019
Rivista: 
MOLECULAR GENETICS & GENOMIC MEDICINE  
Abstract: Activating pathogenic variants in PIK3CA gene usually occur at a mosaic status and underlie a variety of segmental overgrowth phenotypes. Germline variants in PIK3CA have been rarely reported, described in a total of 12 patients with macrocephaly to date. Clinical and prognostic features of these germline variants have not been described in detail yet.
Handle: http://hdl.handle.net/11586/234543
Appare nelle tipologie:1.1 Articolo in rivista

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http://hdl.handle.net/11586/234543
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