A novel nonsense mutation in NPR2 gene causing Acromesomelic dysplasia, type Maroteaux in a consanguineous family in Southern Punjab (Pakistan)

BACKGROUND: Acromesomelic dysplasia, type Maroteaux (AMDM) is a rare skeletal dysplasia following autosomal recessive mode of inheritance and characterized by abnormal growth plates, short and abnormal bones in the extremities and spine. OBJECTIVE: Present study was designed to report the molecular...

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Detalles Bibliográficos
Autores principales: Mustafa, Saima, Akhtar, Zafrin, Latif, Muhammad, Hassan, Mubashir, Faisal, Muhammad, Iqbal, Furhan
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Springer Singapore 2020
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7374443/
https://www.ncbi.nlm.nih.gov/pubmed/32506268
http://dx.doi.org/10.1007/s13258-020-00955-3

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7374443/
https://www.ncbi.nlm.nih.gov/pubmed/32506268
http://dx.doi.org/10.1007/s13258-020-00955-3

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