A Missense Mutation (c.1037 G > C, p. R346P) in PAPSS2 Gene Results in Autosomal Recessive form of Brachyolmia Type 1 (Hobaek Form) in A Consanguineous Family

Background: Brachyolmia is a skeletal disorder with an autosomal mode of inheritance (both dominant and recessive) in which the patients have a short height, scoliosis and a reduced trunk size. Methods: From the Muzaffargarh District in Pakistan, a consanguineous family with multiple Brachyolmia-aff...

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Detalles Bibliográficos
Autores principales: Mustafa, Saima, Hussain, Malik Fiaz, Latif, Muhammad, Ijaz, Maryam, Asif, Muhammad, Hassan, Mubashir, Faisal, Muhammad, Iqbal, Furhan
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2022
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9690184/
https://www.ncbi.nlm.nih.gov/pubmed/36421772
http://dx.doi.org/10.3390/genes13112096

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9690184/
https://www.ncbi.nlm.nih.gov/pubmed/36421772
http://dx.doi.org/10.3390/genes13112096

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