Cornelia de Lange individuals with new and recurrentSMC1Amutations enhance delineation of mutation repertoire and phenotypic spectrum
作者： Cristina Gervasini , Silvia Russo , Anna Cereda , Ilaria Parenti , Maura Masciadri
DOI: 10.1002/AJMG.A.36252
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摘要: … in this cohort to develop epilepsy; three patients suffered … SMC1A mutations in mosaic conditions may be subject to fewer constraints than germline mutations. Indeed, somatic SMC1A …
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