Identification of a Novel NOG Missense Mutation in a Chinese Family With Symphalangism and Tarsal Coalitions
Author:
Publisher
Frontiers Media SA
Subject
Genetics(clinical),Genetics,Molecular Medicine
Reference25 articles.
1. Group I-intron trans-splicing and mRNA editing in the mitochondria of placozoan animals.;Burger;Trends Genet.,2009
2. Identification of deleterious mutations within three human genomes.;Chun;Genome Res.,2009
3. Tarsal-carpal coalition syndrome: report of a novel missense mutation in NOG gene and phenotypic delineation.;Das Bhowmik;Am. J. Med. Genet. A,2018
4. Nomenclature: vertebrate mediators of TGFbeta family signals.;Derynck;Cell,1996
5. Identical mutations in NOG can cause either tarsal/carpal coalition syndrome or proximal symphalangism.;Dixon;Genet. Med.,2001
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2. Case Report: Identification of a novel CASK missense variant in a Chinese family with MICPCH;Frontiers in Genetics;2022-08-25
3. Esophageal atresia/tracheoesophageal fistula and proximal symphalangism in a patient with a NOG nonsense mutation;American Journal of Medical Genetics Part A;2021-09-02
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5. Delayed-Onset NOG Gene-Related Syndromic Conductive Deafness: A Case Report;Ear, Nose & Throat Journal;2020-08-14
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