A Start Codon Variant in NOG Underlies Symphalangism and Ossicular Chain Malformations Affecting Both the Incus and the Stapes

We performed exome sequencing to evaluate the underlying molecular cause of a patient with bilateral conductive hearing loss due to multiple ossicular abnormalities as well as symphalangism of the fifth digits. This leads to the identification of a novel heterozygous start codon variant in the NOG g...

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Bibliografiska uppgifter
I publikationen:Case Rep Genet
Huvudupphovsmän: Lindquist, Nathan R., Appelbaum, Eric N., Acharya, Anushree, Vrabec, Jeffrey T., Leal, Suzanne M., Schrauwen, Isabelle
Materialtyp: Artigo
Språk:Inglês
Publicerad: Hindawi 2019
Ämnen:
Case Report
Länkar:https://ncbi.nlm.nih.gov/pmc/articles/PMC6679842/
https://ncbi.nlm.nih.gov/pubmed/31428484
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1155/2019/2836263
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