RAB33B and PCNT variants in two Pakistani families with skeletal dysplasia and short stature.

Ain, Noor Ul; Fatima, Zunaira; Naz, Sadaf; Makitie, Outi

Ain, Noor Ul; Fatima, Zunaira; Naz, Sadaf; Makitie, Outi.

Afiliación

Ain NU; School of Biological Sciences, University of the Punjab, Quaid-i-Azam Campus, Lahore, 54590, Pakistan.
Fatima Z; Department of Molecular Medicine and Surgery and Center for Molecular Medicine, Karolinska Institutet, Stockholm, Sweden.
Naz S; Present address: Institute of Biomedical and Genetic Engineering, Islamabad, Pakistan.
Makitie O; School of Biological Sciences, University of the Punjab, Quaid-i-Azam Campus, Lahore, 54590, Pakistan.

BMC Musculoskelet Disord ; 22(1): 630, 2021 Jul 20.

Article en En | MEDLINE | ID: mdl-34284742

Asunto(s)

Osteocondrodisplasias; Consanguinidad; Humanos; Pakistán; Linaje; Fenotipo; Proteínas de Unión al GTP rab

Palabras clave

MOPDII; Pakistan; Short stature; Skeletal dysplasia; Smith-McCort dysplasia; Whole genome sequencing

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Texto completo: 1 Banco de datos: MEDLINE Asunto principal: Osteocondrodisplasias Tipo de estudio: Prognostic_studies Límite: Humans País/Región como asunto: Asia Idioma: En Revista: BMC Musculoskelet Disord Asunto de la revista: FISIOLOGIA / ORTOPEDIA Año: 2021 Tipo del documento: Article País de afiliación: Pakistán

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