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Updated: Jun 17, 2025

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在HUWE1中的新型遗传变异:产前和产后神经成像现象型

Mario Tortora1, Elisa Cattaneo1, Luigina Spaccini1

  • 1From the Department of Pediatric Radiology and Neuroradiology (M.T., A.R., C.D.); Clinical Genetics Unit (E.C.), Department of Pediatrics; Clinical Genetics Unit (L.S.), Department of Obstetrics and Gynecology, "Vittore Buzzi" Children's Hospital - ASST Fatebenefratelli-Sacco, Milan; Medical Genetics Laboratory (M.I.), Hospital Papa Giovanni XXIII, Bergamo; Pediatric Neurology Unit (B.S.), Department of Pediatrics, "Vittore Buzzi" Children's Hospital - ASST Fatebenefratelli-Sacco, Milan; Translational Cytogenomics Research Unit (A.M., A.N.), IRCCS Bambino Gesù Pediatric Hospital, Rome; Fetal Therapy Unit "U. Nicolini" (M.L.), Department of Obstetrics and Gynecology, Buzzi Childrens' Hospital, Milan; and Pediatric Neurology Unit (P.V.), "Vittore Buzzi" Children's Hospital, Department of Biomedical and Clinical Sciences "L. Sacco", University of Milan, Italy.

Neurology. Genetics
|August 14, 2024
PubMed
概括

这项研究详细介绍了患有HUWE1基因的致病变体的患者的神经放射学发现,突出强调了庞丁和小脑低成形. 这些发现有助于诊断影响神经系统发育的罕见遗传疾病.

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