Cargando…
Congenital Hypotonia: Cracking a SAGA of consanguineous kindred harboring four genetic variants
BACKGROUND: We aimed to determine the molecular and biochemical basis of an extended highly consanguineous family with multiple children presenting severe congenital hypotonia. METHODS: Clinical investigations, homozygosity mapping, linkage analyses and whole exome sequencing, were performed. mRNA a...
| Autores principales: | , , , , , , , , , |
|---|---|
| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
John Wiley and Sons Inc.
2021
|
| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8801141/ https://www.ncbi.nlm.nih.gov/pubmed/34970863 http://dx.doi.org/10.1002/mgg3.1849 |