Phenotypic Overlap of Roberts and Baller-Gerold Syndromes in Two Patients With Craniosynostosis, Limb Reductions, and ESCO2 Mutations

Phenotypic Overlap of Roberts and Baller-Gerold Syndromes in Two Patients With Craniosynostosis, Limb Reductions, and ESCO2 Mutations

Baller-Gerold (BGS, MIM#218600) and Roberts (RBS, MIM#268300) syndromes are rare autosomal recessive disorders caused, respectively, by biallelic alterations in RECQL4 (MIM*603780) and ESCO2 (MIM*609353) genes. Common features are severe growth retardation, limbs shortening and craniofacial abnormal...

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Main Authors: Elisa Adele Colombo (Author), Hatice Mutlu-Albayrak (Author), Yousef Shafeghati (Author), Mine Balasar (Author), Juliette Piard (Author), Davide Gentilini (Author), Anna Maria Di Blasio (Author), Cristina Gervasini (Author), Lionel Van Maldergem (Author), Lidia Larizza (Author)
Format: Book
Published: Frontiers Media S.A., 2019-05-01T00:00:00Z.
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3rd Floor Main Library

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