White-Sutton syndrome and congenital heart disease: case report and literature review

Autor: Jing Duan, Yuanzhen Ye, Jianxiang Liao, Li Chen, Xia Zhao, Chao Liu, Jialun Wen

Publikováno v: BMC Pediatrics, Vol 23, Iss 1, Pp 1-8 (2023)

Abstract Background White-Sutton syndrome is an autosomal dominant neurodevelopmental disorder caused by heterozygous mutation in POGZ (Pogo Transposable Element Derived with ZNF Domain). This syndrome is characterized by delayed psychomotor developm

Externí odkaz: https://doaj.org/article/840875c5f3b041b68c81cf88a592248d

Expanding the neurological and behavioral phenotype of White-Sutton syndrome: a case report

Autor: Bernadette Donnarumma, Maria Pia Riccio, Gaetano Terrone, Melania Palma, Pietro Strisciuglio, Iris Scala

Publikováno v: Italian Journal of Pediatrics, Vol 47, Iss 1, Pp 1-6 (2021)

Abstract Background White-Sutton (WHSUS) is a recently recognized syndrome caused by mutations of the POGZ gene. Approximately 70 patients have been reported to date. Intellectual disability, hypotonia, behavioral abnormalities, autism, and typical f

Externí odkaz: https://doaj.org/article/f7b9d998eb274bbc88549d2cffb2f1d0

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Genotype-Phenotype Comparison in POGZ-Related Neurodevelopmental Disorders by Using Clinical Scoring

Autor: Dóra Nagy, Sarah Verheyen, Kristen M. Wigby, Artem Borovikov, Artem Sharkov, Valerie Slegesky, Austin Larson, Christina Fagerberg, Charlotte Brasch-Andersen, Maria Kibæk, Ingrid Bader, Rebecca Hernan, Frances A. High, Wendy K. Chung, Jolanda H. Schieving, Jana Behunova, Mateja Smogavec, Franco Laccone, Martina Witsch-Baumgartner, Joachim Zobel, Hans-Christoph Duba, Denisa Weis

Publikováno v: Nagy, D, Verheyen, S, Wigby, K M, Borovikov, A, Sharkov, A, Slegesky, V, Larson, A, Fagerberg, C, Brasch-Andersen, C, Kibæk, M, Bader, I, Hernan, R, High, F A, Chung, W K, Schieving, J H, Behunova, J, Smogavec, M, Laccone, F, Witsch-Baumgartner, M, Zobel, J, Duba, H C & Weis, D 2022, ' Genotype-Phenotype Comparison in POGZ-Related Neurodevelopmental Disorders by Using Clinical Scoring ', Genes, vol. 13, no. 1, 154 . https://doi.org/10.3390/genes13010154
Genes, Vol 13, Iss 154, p 154 (2022)
Genes
Genes, 13
Genes; Volume 13; Issue 1; Pages: 154
Genes, 13, 1

Contains fulltext : 248217.pdf (Publisher’s version ) (Open Access) POGZ-related disorders (also known as White-Sutton syndrome) encompass a wide range of neurocognitive abnormalities and other accompanying anomalies. Disease severity varies widely

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ca05a0f3c931696be7d3915fe5458505
https://doi.org/10.3390/genes13010154

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