Acrofacial dysostosis type Rodríguez
Author:
Publisher
Wiley
Subject
Genetics (clinical),Genetics
Reference16 articles.
1. Lethal acrofacial dysostosis, pre- and post-axial defects of the hands, and bilateral renal agenesis;Bates;Clin Dysmorphol,2002
2. Reply to Dr. Rodríguez et al;Fryns;Am J Med Genet,1992
3. On the nosology of severe acrofacial dysostosis with limb deficiency;Fryns;Am J Med Genet,1999
4. New lethal acrofacial dysostosis syndrome;Fryns;Am J Med Genet,1991
5. Nager acrofacial dysostosis: Evidence for apparent heterogeneity;Goldstein;Am J Med Genet,1988
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1. Sf3b4 regulates chromatin remodeler splicing and Hox expression;Differentiation;2023-05
2. Molecular mechanisms of hearing loss in Nager syndrome;Developmental Biology;2021-08
3. The final demise of Rodriguez lethal acrofacial dysostosis: A case report and review of the literature;American Journal of Medical Genetics Part A;2019-03-28
4. Rodriguez acrofacial dysostosis is caused by apparently de novo heterozygous mutations in theSF3B4gene;American Journal of Medical Genetics Part A;2016-09-19
5. Altered mRNA Splicing, Chondrocyte Gene Expression and Abnormal Skeletal Development due to SF3B4 Mutations in Rodriguez Acrofacial Dysostosis;PLOS Genetics;2016-09-13
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