Loading...
Mutations in DYNC2H1, the cytoplasmic dynein 2, heavy chain 1 motor protein gene, cause short-rib polydactyly type I, Saldino–Noonan type
The short-rib polydactyly syndromes (SRPS) are autosomal recessively inherited, genetically heterogeneous skeletal ciliopathies. SRPS phenotypes were historically categorized as types I–IV, with type I first delineated by Saldino and Noonan in 1972. Characteristic findings among all forms of SRP inc...
Na minha lista:
| Udgivet i: | Clin Genet |
|---|---|
| Main Authors: | , , , , , , , |
| Format: | Artigo |
| Sprog: | Inglês |
| Udgivet: |
2017
|
| Fag: | |
| Online adgang: | https://ncbi.nlm.nih.gov/pmc/articles/PMC5538819/ https://ncbi.nlm.nih.gov/pubmed/27925158 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1111/cge.12947 |
| Tags: |
Tilføj Tag
Ingen Tags, Vær først til at tagge denne postø!
|