Longitudinal imaging in Kleefstra syndrome-Brief report and literature review

• मुख्य लेखकों: Giovanni Castellucci (लेखक), Csaba Juhasz (लेखक), Aimee F. Luat (लेखक)
• स्वरूप: पुस्तक
• प्रकाशित: Wiley, 2023-09-01T00:00:00Z.
• विषय: article
• ऑनलाइन पहुंच: Connect to this object online.

Abstract Background Kleefstra syndrome (KS) is a rare genetic condition affecting the euchromatic histone methyltransferase 1 (EHMT1) gene, typically presenting with developmental delay, generalized hypotonia, distinctive facial dysmorphisms, and neuropsychiatric anomalies. Methods We collected long...