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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...
Gorde:
| Argitaratua izan da: | J Bone Miner Res |
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| Egile Nagusiak: | , , |
| Formatua: | Artigo |
| Hizkuntza: | Inglês |
| Argitaratua: |
2019
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| Gaiak: | |
| Sarrera elektronikoa: | 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 |
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