Loading...
De novo 2q36.3q37.1 deletion encompassing TRIP12 and NPPC yields distinct phenotypes
We report a patient with developmental delay, extremely short stature, small hands, dysmorphic facial features, hearing loss, and epilepsy carrying a de novo 2.76-Mb deletion of 2q36.3q37.1, including TRIP12 and NPPC. TRIP12 haploinsufficiency causes developmental delay with isolated dysmorphic faci...
Saved in:
| Published in: | Hum Genome Var |
|---|---|
| Main Authors: | , , , , , , , , , , |
| Format: | Artigo |
| Language: | Inglês |
| Published: |
Nature Publishing Group UK
2020
|
| Subjects: | |
| Online Access: | https://ncbi.nlm.nih.gov/pmc/articles/PMC7261772/ https://ncbi.nlm.nih.gov/pubmed/32528716 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/s41439-020-0107-1 |
| Tags: |
Add Tag
No Tags, Be the first to tag this record!
|