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RAB33B and PCNT variants in two Pakistani families with skeletal dysplasia and short stature
BACKGROUND: Skeletal dysplasia is a heterogeneous group of disorders resulting from different genetic variants in humans. The current study was designed to identify the genetic causes of skeletal dysplasia and short stature in two consanguineous families from Pakistan, both comprised of multiple aff...
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| Publicado no: | BMC Musculoskelet Disord |
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| Main Authors: | , , , |
| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
BioMed Central
2021
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| Assuntos: | |
| Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC8293541/ https://ncbi.nlm.nih.gov/pubmed/34284742 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s12891-021-04503-2 |
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