Detailed analysis of phenotypes and genotypes in megalencephaly-capillary malformation-polymicrogyria syndrome caused by somatic mosaicism of PIK3CA mutations

BACKGROUND: Megalencephaly-capillary malformation-polymicrogyria syndrome (MCAP) belongs to a group of conditions called the PIK3CA-related overgrowth spectrum (PROS). The varying phenotypes and low frequencies of each somatic mosaic variant make confirmative diagnosis difficult. We present 12 patie...

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Vydáno v:Orphanet J Rare Dis
Hlavní autoři: Park, Hyun Jin, Shin, Chang Ho, Yoo, Won Joon, Cho, Tae-Joon, Kim, Man Jin, Seong, Moon-Woo, Park, Sung Sup, Lee, Jeong Ho, Sim, Nam Suk, Ko, Jung Min
Médium: Artigo
Jazyk:Inglês
Vydáno: BioMed Central 2020
Témata:
Research
On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC7418424/
https://ncbi.nlm.nih.gov/pubmed/32778138
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s13023-020-01480-y
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