Cargando…
Homozygous noncanonical splice variant in LSM1 in two siblings with multiple congenital anomalies and global developmental delay
Two siblings, one male and one female, ages 6 and 13 yr old, have similar clinical features of global developmental delay, multiple congenital anomalies affecting the cardiac, genitourinary, and skeletal systems, and abnormal eye movements. Whole-genome sequencing revealed a homozygous splice varian...
| Autores principales: | , , , , , |
|---|---|
| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
Cold Spring Harbor Laboratory Press
2019
|
| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6549555/ https://www.ncbi.nlm.nih.gov/pubmed/31010896 http://dx.doi.org/10.1101/mcs.a004101 |