Pitt-hopkins Syndrome
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Last Posted: May 07, 2024
- [Genetic analysis of a fetus with Pitt-Hopkins syndrome due to a 18q21.2q21.31 microdeletion].
Yan Zhang, et al. Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics 2024 0 (5) 622-625 - WNT/?-Catenin Pathway and Epigenetic Mechanisms Regulate the Pitt-Hopkins Syndrome and Schizophrenia Risk Gene null.
Hennig Krista M, et al. Molecular neuropsychiatry 2017 0 (1) 53-71 - [Genetic analysis of a case with Pitt-Hopkins syndrome due to variant of TCF4 gene].
Ma Jian, et al. Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics 2020 0 (11) 1253-1256 - Contribution of gene mutations to Silver-Russell syndrome phenotype: multigene sequencing analysis in 92 etiology-unknown patients.
Inoue Takanobu, et al. Clinical epigenetics 2020 0 (1) 86 - [Genetic analysis of a rare case of Pitt-Hopkins syndrome due to partial deletion of TCF4 gene].
Shen Xueping, et al. Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics 2020 0 (4) 459-461 - Clinician's guide to genes associated with Rett-like phenotypes-Investigation of a Danish cohort and review of the literature.
Schönewolf-Greulich B et al. Clinical genetics 2019 95(2) 221-230 - Diagnosis and management in Pitt-Hopkins syndrome: First international consensus statement.
Zollino Marcella et al. Clinical genetics 2019 Apr 95(4) 462-478 - Disease-causing variants in TCF4 are a frequent cause of intellectual disability: lessons from large-scale sequencing approaches in diagnosis.
Mary Laura, et al. European journal of human genetics : EJHG 2018 4 - Pitt-Hopkins syndrome
From NCATS Genetic and Rare Diseases Information Center
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Disclaimer: Articles listed in the Public Health Knowledge Base are selected by Public Health Genomics Branch to provide current awareness of the literature and news. Inclusion in the update does not necessarily represent the views of the Centers for Disease Control and Prevention nor does it imply endorsement of the article's methods or findings. CDC and DHHS assume no responsibility for the factual accuracy of the items presented. The selection, omission, or content of items does not imply any endorsement or other position taken by CDC or DHHS. Opinion, findings and conclusions expressed by the original authors of items included in the update, or persons quoted therein, are strictly their own and are in no way meant to represent the opinion or views of CDC or DHHS. References to publications, news sources, and non-CDC Websites are provided solely for informational purposes and do not imply endorsement by CDC or DHHS.
- Page last reviewed:Feb 1, 2024
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