The expanding phenotype of OFD1‐related disorders: Hemizygous loss‐of‐function variants in three patients with primary ciliary dyskinesia

BACKGROUND: OFD1 has long been recognized as the gene implicated in the classic dysmorphology syndrome, oral‐facial‐digital syndrome type I (OFDSI). Over time, pathogenic variants in OFD1 were found to be associated with X‐linked intellectual disability, Joubert syndrome type 10 (JBTS10), Simpson‐Go...

詳細記述

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書誌詳細
出版年:Mol Genet Genomic Med
主要な著者: Hannah, William B., DeBrosse, Suzanne, Kinghorn, BreAnna, Strausbaugh, Steven, Aitken, Moira L., Rosenfeld, Margaret, Wolf, Whitney E., Knowles, Michael R., Zariwala, Maimoona A.
フォーマット: Artigo
言語:Inglês
出版事項: John Wiley and Sons Inc. 2019
主題:
Original Articles
オンライン･アクセス:https://ncbi.nlm.nih.gov/pmc/articles/PMC6732318/
https://ncbi.nlm.nih.gov/pubmed/31373179
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/mgg3.911
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