Identification of pathogenic YY1AP1 splice variants in siblings with Grange syndrome by whole exome sequencing

Grange syndrome is an autosomal recessive condition characterized by arterial occlusions and hypertension. Syndactyly, brachydactyly, bone fragility, heart defects, and learning disabilities have also been reported. Loss‐of‐function variants in YY1AP1 have only recently been associated with Grange s...

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Detalles Bibliográficos
Autores principales: Rath, Matthias, Spiegler, Stefanie, Strom, Tim M., Trenkler, Johannes, Kroisel, Peter Michael, Felbor, Ute
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley & Sons, Inc. 2018
Materias:
Clinical Reports
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6590215/
https://www.ncbi.nlm.nih.gov/pubmed/30556293
http://dx.doi.org/10.1002/ajmg.a.60700

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6590215/
https://www.ncbi.nlm.nih.gov/pubmed/30556293
http://dx.doi.org/10.1002/ajmg.a.60700

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