CLOVES syndrome caused by mosaic mutation in the PIK3CA gene identified in fibroblasts

CLOVES syndrome caused by mosaic mutation in the PIK3CA gene identified in fibroblasts

CLOVES syndrome is a rare dysmorphic syndrome with multiple defects caused by somatic activating mutations in the PIK3CA gene on chromosome 3q26.32. There are currently less than 200 individuals worldwide living with CLOVES syndrome (OMIM: 612918, ORPHA: 140944). Due to the extremely low prevalence...

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Main Authors: Magdalena Kłaniewska (Author), Malgorzata Rydzanicz (Author), Joanna Kosińska (Author), Mateusz Biela (Author), Anna Walczak (Author), Elżbieta Szmida (Author), Anna Rozensztrauch (Author), Rafał Płoski (Author), Robert Śmigiel (Author)
Format: Book
Published: Termedia Publishing House, 2021-07-01T00:00:00Z.
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3rd Floor Main Library

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