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A de novo heterozygous variant in the SON gene is associated with Zhu‐Tokita‐Takenouchi‐Kim syndrome
BACKGROUND: Zhu‐Tokita‐Takenouchi‐Kim (ZTTK, OMIM# 617140) syndrome is a rare, autosomal dominant genetic disorder caused by heterozygous variants in the SON gene (OMIM#182465, GenBank#NC_000021.9). There are only 33 cases and 26 causative SON variants reported to date since the first report in 2015...
| Autores principales: | , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
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John Wiley and Sons Inc.
2020
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| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7667370/ https://www.ncbi.nlm.nih.gov/pubmed/32926520 http://dx.doi.org/10.1002/mgg3.1496 |