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Celemics’ Publications

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

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Orphanet Journal Of Rare Diseases

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

Park HJ, Shin CH, Yoo WJ, Cho TJ, Kim MJ, Seong MW, et al. Detailed analysis of phenotypes and genotypes in megalencephaly-capillary malformation-polymicrogyria syndrome caused by somatic mosaicism of PIK3CA mutations. Orphanet J Rare Dis. 2020 Aug 10;15(1):205.

 

10.1186/s13023-020-01480-y