Recurrent mutation in CDMP1 in a family with Grebe chondrodysplasia: broadening the phenotypic manifestation of syndrome in Pakistani population

Grebe syndrome (OMIM-200700) is a very rare type of acromesomelic dysplasia with autosomal recessive inheritance. We studied a Pakistani family with two affected individuals having typical features of Grebe chondrodysplasia. Patients were observed with short and deformed limbs having a proximo-dista...

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Detalles Bibliográficos
Autores principales: Mumtaz, Sara, Riaz, Hafiza Fizzah, Touseef, Mohammad, Basit, Sulman, Haque, Muhammad Faiyaz Ul, Malik, Sajid
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Professional Medical Publications 2015
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4744317/
https://www.ncbi.nlm.nih.gov/pubmed/26870132
http://dx.doi.org/10.12669/pjms.316.8115

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4744317/
https://www.ncbi.nlm.nih.gov/pubmed/26870132
http://dx.doi.org/10.12669/pjms.316.8115

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