Cargando…
De novo mutations in FBRSL1 cause a novel recognizable malformation and intellectual disability syndrome
We report truncating de novo variants in specific exons of FBRSL1 in three unrelated children with an overlapping syndromic phenotype with respiratory insufficiency, postnatal growth restriction, microcephaly, global developmental delay and other malformations. The function of FBRSL1 is largely unkn...
| Autores principales: | , , , , , , , , , , , , , |
|---|---|
| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
Springer Berlin Heidelberg
2020
|
| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7519918/ https://www.ncbi.nlm.nih.gov/pubmed/32424618 http://dx.doi.org/10.1007/s00439-020-02175-x |