A case of White–Sutton syndrome arising from a maternally-inherited mutation in POGZ

POGZ is located on chromosome 1q21.3, encoding a pogo transposable element-derived protein with a zinc finger cluster. White–Sutton syndrome (WHSUS, OMIM:616364) is a genetic disorder resulting from de novo heterozygous pathogenic variants in POGZ, which manifests as intellectual disability, autism...

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Detalles Bibliográficos
Autores principales: Liu, Siqin, Yan, Zhenxing, Huang, Yaowei, Zheng, Wenxia, Deng, Yiting, Zou, Yang, Xie, Huifang
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Lippincott Williams & Wilkins 2021
Materias:
Brief Reports
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8265545/
https://www.ncbi.nlm.nih.gov/pubmed/34133408
http://dx.doi.org/10.1097/YPG.0000000000000288

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