Ładuje się......
A novel homozygous missense mutation in BHLHA9 causes mesoaxial synostotic syndactyly with phalangeal reduction in a Pakistani family
Mesoaxial synostotic syndactyly with phalangeal reduction (MSSD) is a rare non-syndromic limb malformation with autosomal recessive inheritance. To date, only a few affected families with MSSD who had BHLHA9 mutations have been reported. The present report describes a consanguineous Pakistani family...
Zapisane w:
| Wydane w: | Hum Genome Var |
|---|---|
| Główni autorzy: | , , , , |
| Format: | Artigo |
| Język: | Inglês |
| Wydane: |
Nature Publishing Group
2017
|
| Hasła przedmiotowe: | |
| Dostęp online: | https://ncbi.nlm.nih.gov/pmc/articles/PMC5729216/ https://ncbi.nlm.nih.gov/pubmed/29263794 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/hgv.2017.54 |
| Etykiety: |
Dodaj etykietę
Nie ma etykietki, Dołącz pierwszą etykiete!
|