The final demise of Rodriguez lethal acrofacial dysostosis: A case report and review of the literature
Author:
Affiliation:
1. Clinical Genetics CenterThe Children's Hospital of Philadelphia Philadelphia Pennsylvania
2. Division of Plastic and Reconstructive SurgeryThe Children's Hospital of Philadelphia Philadelphia Pennsylvania
Publisher
Wiley
Subject
Genetics (clinical),Genetics
Link
https://onlinelibrary.wiley.com/doi/pdf/10.1002/ajmg.a.61121
Reference20 articles.
1. Haploinsufficiency of SF3B4, a Component of the Pre-mRNA Spliceosomal Complex, Causes Nager Syndrome
2. Acrofacial dysostosis type Rodríguez
3. New lethal acrofacial dysostosis syndrome
4. Prenatal phenotype of Nager syndrome and Rodriguez syndrome
5. Nager acrofacial dysostosis: Autosomal dominant inheritance in mild to moderately affected mother and lethally affected phocomelic son
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