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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...
| Autores principales: | , , , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
John Wiley & Sons, Inc.
2018
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| Materias: | |
| 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 |