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Phenotypic Analysis of Patients with SMC1A Mutations and Epilepsy

the Cornelia de Lange Syndrome (CdLS) Foundation USA
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RAD21 also forms part of the core cohesin complex. Changes in RAD21 have been found in a small percentage (1-2%) of causes for CdLS. Individuals with changes in RAD21 are reported to have a non-classic CdLS phenotype.

                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                                

Weitere Seiten mit demselben Thema finden SMC1A4 SMC1A1 Autonomic nervous system6 Seizures1