Phenotypic expansion in Zhu‐Tokita‐Takenouchi‐Kim syndrome caused by de novo variants in the SON gene

BACKGROUND: The genetic etiology of intellectual and psychomotor disability without a defined spectrum of dysmorphic features is usually monogenic. As no diagnostic criteria for such diseases are established, the clinical diagnosis becomes to be a challenge. The object of our paper is to present two...

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Detalles Bibliográficos
Autores principales: Slezak, Ryszard, Smigiel, Robert, Rydzanicz, Malgorzata, Pollak, Agnieszka, Kosinska, Joanna, Stawinski, Piotr, Malgorzata Sasiadek, Maria, Ploski, Rafal
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2020
Materias:
Clinical Reports
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7549597/
https://www.ncbi.nlm.nih.gov/pubmed/32705777
http://dx.doi.org/10.1002/mgg3.1432

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7549597/
https://www.ncbi.nlm.nih.gov/pubmed/32705777
http://dx.doi.org/10.1002/mgg3.1432

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