A de novo heterozygous variant in the SON gene is associated with Zhu‐Tokita‐Takenouchi‐Kim syndrome
Abstract 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...
Main Authors: | Lianlian Yang, Fan Yang |
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Format: | Article |
Language: | English |
Published: |
Wiley
2020-11-01
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Series: | Molecular Genetics & Genomic Medicine |
Online Access: | https://doi.org/10.1002/mgg3.1496 |
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