Identification of CNKSR2 Pathogenic Variant and Detection of Strong XCI in a Female Patient With Severe DEE ‐ SWAS and Phenotype Expansion in Male Patients

Fuente: Wiley Open Access
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Bibliographic Details
Main Authors: Yu Katata, Yukimune Okubo, Haruhiko Nakamura, Naoya Saijo, Masakiyo Hayasaka, Jun Takayama, Shigeo Kure, Atsuo Kikuchi
Format: Artículo Open Access
Published: Wiley 2025
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