A carregar...
A Heterozygous Splice-Site Mutation in PTHLH Causes Autosomal Dominant Shortening of Metacarpals and Metatarsals
Short metacarpals and/or metatarsals are typically observed in pseudohypoparathyroidism (PHP) type la (PHP1A) or pseudo-PHP (PPHP), disorders caused by inactivating GNAS mutations involving exons encoding the alpha-subunit of the stimulatory G protein (Gsα). Skeletal abnormalities similar to those i...
Na minha lista:
| Publicado no: | J Bone Miner Res |
|---|---|
| Main Authors: | , , |
| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
2019
|
| Assuntos: | |
| Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC6637419/ https://ncbi.nlm.nih.gov/pubmed/30458061 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/jbmr.3628 |
| Tags: |
Adicionar Tag
Sem tags, seja o primeiro a adicionar uma tag!
|