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Mendelian disorders of the epigenetic machinery: postnatal malleability and therapeutic prospects.表观遗传机制的孟德尔疾病：出生后的可塑和治疗前景。
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Expansion and further delineation of the SETD5 phenotype leading to global developmental delay, variable dysmorphic features, and reduced penetrance.导致全面发育迟缓、可变的发育不良特征和低外显率的 SETD5 表型的扩展和进一步描述。
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Mendelian disorders of the epigenetic machinery: tipping the balance of chromatin states.表观遗传机制的孟德尔式疾病：打破染色质状态的平衡
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Editorial: Characterizing the neurobehavioral phenotype of mendelian disorders of epigenetic machinery.

作者信息

Ng Rowena, Harris Jacqueline, Kleefstra Tjitske, Morgan Angela T, Simpson Brittany

机构信息

Department of Neuropsychology, Kennedy Krieger Institute, Baltimore, MD, United States.

Department of Psychiatry and Behavioral Sciences, Johns Hopkins University School of Medicine, Baltimore, MD, United States.

出版信息

Front Genet. 2023 Dec 5;14:1338078. doi: 10.3389/fgene.2023.1338078. eCollection 2023.

DOI:10.3389/fgene.2023.1338078
PMID:38116293
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC10728862/
Abstract
摘要