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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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Detalles Bibliográficos
Autores principales:	Ain, Noor ul, Fatima, Zunaira, Naz, Sadaf, Makitie, Outi
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	BioMed Central 2021
Materias:	Research
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8293541/ https://www.ncbi.nlm.nih.gov/pubmed/34284742 http://dx.doi.org/10.1186/s12891-021-04503-2

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