Acrofacial dysostosis syndrome type Rodriguez: Prenatal diagnosis and autopsy findings
Author:
Publisher
Wiley
Subject
Genetics (clinical),Genetics
Link
http://onlinelibrary.wiley.com/wol1/doi/10.1002/ajmg.a.32021/fullpdf
Reference15 articles.
1. Lethal acrofacial dysostosis, pre- and post-axial defects of the hands, and bilateral renal agenesis
2. Acrofacial dysostosis type Rodríguez
3. Reply to Dr. Rodríguez et al.
4. On the nosology of severe acrofacial dysostosis with limb deficiency
5. New lethal acrofacial dysostosis syndrome
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1. Molecular mechanisms of hearing loss in Nager syndrome;Developmental Biology;2021-08
2. 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
3. Rodriguez acrofacial dysostosis is caused by apparently de novo heterozygous mutations in theSF3B4gene;American Journal of Medical Genetics Part A;2016-09-19
4. Altered mRNA Splicing, Chondrocyte Gene Expression and Abnormal Skeletal Development due to SF3B4 Mutations in Rodriguez Acrofacial Dysostosis;PLOS Genetics;2016-09-13
5. Rodriguez lethal acrofacial dysostosis syndrome with ambiguous genitalia;Taiwanese Journal of Obstetrics and Gynecology;2016-08
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