患有贝克维茨-维德曼综合征单亲裂殖症的早产儿的新尸检发现：多灶性发育障碍性软骨瘤病变和皮质神经元异位症

IF 0.7 4区医学 Q4 PATHOLOGY

Fetal and Pediatric Pathology Pub Date : 2024-04-08 DOI:10.1080/15513815.2024.2337639

Stephanie Collier, Ewa M. Wasilewska, Randall Craver

引用次数: 0

摘要

贝克维斯-韦德曼综合征（BWS）是一种生长发育过度症，具有病因基因组印记，其特点是分子异质性和表型变异性。该病症与局部...

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Novel Autopsy Findings in Premature Infant With Beckwith-Wiedemann Syndrome Uniparental Disomy: Multifocal Developmental Dysplastic Chrondromatous Lesions and Cortical Neuronal Heterotopias

Beckwith-Wiedemann syndrome (BWS) is an overgrowth disorder that exhibits etiologic genomic imprinting characterized by molecular heterogeneity and phenotypic variability. Associations with localiz...

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来源期刊

Fetal and Pediatric Pathology 医学-病理学

CiteScore

3.00

自引率

0.00%

发文量

审稿时长

6-12 weeks

期刊介绍： Fetal and Pediatric Pathology is an established bimonthly international journal that publishes data on diseases of the developing embryo, newborns, children, and adolescents. The journal publishes original and review articles and reportable case reports. The expanded scope of the journal encompasses molecular basis of genetic disorders; molecular basis of diseases that lead to implantation failures; molecular basis of abnormal placentation; placentology and molecular basis of habitual abortion; intrauterine development and molecular basis of embryonic death; pathogenisis and etiologic factors involved in sudden infant death syndrome; the underlying molecular basis, and pathogenesis of diseases that lead to morbidity and mortality in newborns; prenatal, perinatal, and pediatric diseases and molecular basis of diseases of childhood including solid tumors and tumors of the hematopoietic system; and experimental and molecular pathology.