Expanding the Phenotype of the <i>FAM149B1</i>-Related Ciliopathy and Identification of Three Neurogenetic Disorders in a Single Family
Biallelic truncating <i>FAM149B1</i> variants result in cilia dysfunction and have been reported in four infants with Joubert syndrome and orofaciodigital syndrome type VI, respectively. We report here on three adult siblings, 18 to 40 years of age, homozygous for the known <i>FAM1...
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| Auteurs principaux: | , , , , , , , |
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| Format: | article |
| Langue: | EN |
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MDPI AG
2021
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| Accès en ligne: | https://doaj.org/article/455b181e07fb4e8aa99e18ee1bbd1fc7 |
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