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

A Missense Mutation (c.1037 G > C, p. R346P) in <i>PAPSS2</i> 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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Bibliographic Details
Main Authors: Saima Mustafa, Malik Fiaz Hussain, Muhammad Latif, Maryam Ijaz, Muhammad Asif, Mubashir Hassan, Muhammad Faisal, Furhan Iqbal
Format: Article
Language:English
Published: MDPI AG 2022-11-01
Series:Genes
Subjects:
brachyolmia
WES
sanger sequencing
Western blot
3D protein structure
Online Access:https://www.mdpi.com/2073-4425/13/11/2096

Internet

https://www.mdpi.com/2073-4425/13/11/2096

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