Delineation of phenotypes and genotypes related to cohesin structural protein RAD21.

doi:10.1007/s00439-020-02138-2

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Article

Delineation of phenotypes and genotypes related to cohesin structural protein RAD21.

Human genetics - 1 May 2020

Krab Lianne C, Marcos-Alcalde Iñigo, Assaf Melissa, Balasubramanian Meena, Andersen Janne Bayer, Bisgaard Anne-Marie, Fitzpatrick David R, Gudmundsson Sanna, Huisman Sylvia A, Kalayci Tugba, Maas Saskia M, Martinez Francisco, McKee Shane, Menke Leonie A, Mulder Paul A, Murch Oliver D, Parker Michael, Pie Juan, Ramos Feliciano J, Rieubland Claudine, Rosenfeld Mokry Jill A, Scarano Emanuela, Shinawi Marwan, Gómez-Puertas Paulino, Tümer Zeynep, Hennekam Raoul C

Abstract excerpt

RAD21 encodes a key component of the cohesin complex, and variants in RAD21 have been associated with Cornelia de Lange Syndrome (CdLS). Limited information on phenotypes attributable to RAD21 variants and genotype-phenotype relationships is currently published. We gathered a series of 49 individuals from 33 families with RAD21 alterations [24 different intragenic sequence variants (2 recurrent), 7 unique...

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Identifiers

PMID: 32193685
DOI: 10.1007/s00439-020-02138-2
PMCID: PMC7170815

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