Caricamento...
Novel compound heterozygous ASXL3 mutation causing Bainbridge-ropers like syndrome and primary IGF1 deficiency
BACKGROUND: De novo truncating and splicing mutations in the additional sex combs-like 3 (ASXL3) gene have been implicated in the development of Bainbridge-Ropers syndrome (BRPS) characterised by severe developmental delay, feeding problems, short stature and characteristic facial features. CASE PRE...
Salvato in:
| Pubblicato in: | Int J Pediatr Endocrinol |
|---|---|
| Autori principali: | , , , , , |
| Natura: | Artigo |
| Lingua: | Inglês |
| Pubblicazione: |
BioMed Central
2017
|
| Soggetti: | |
| Accesso online: | https://ncbi.nlm.nih.gov/pmc/articles/PMC5544984/ https://ncbi.nlm.nih.gov/pubmed/28785287 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s13633-017-0047-9 |
| Tags: |
Aggiungi Tag
Nessun Tag, puoi essere il primo ad aggiungerne! !
|