A novel splice site mutation in the gene was identified by whole-exome sequencing in two siblings with microcephaly and progressive generalized muscular atrophy associated with hypotrichosis.
Download full-text PDF |
Source |
|---|---|
| http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7869383 | PMC |
| http://dx.doi.org/10.1002/ccr3.3637 | DOI Listing |
Publication Analysis
Top Keywords
siblings microcephaly
8
generalized muscular
8
muscular atrophy
8
novel splicing
4
splicing mutation
4
mutation siblings
4
microcephaly generalized
4
atrophy hypotrichosis
4
hypotrichosis novel
4
novel splice
4
Similar Publications
Want AI Summaries of new PubMed Abstracts delivered to your In-box?
Enter search terms and have AI summaries delivered each week - change queries or unsubscribe any time!