Molecular and in silico analyses validates pathogenicity of homozygous mutations in the NPR2 gene underlying variable phenotypes of Acromesomelic dysplasia, type Maroteaux-Reference-Cited by-同舟云学术

Molecular and in silico analyses validates pathogenicity of homozygous mutations in the NPR2 gene underlying variable phenotypes of Acromesomelic dysplasia, type Maroteaux

Published:2018-09 Issue: Volume:102 Page:76-86
ISSN:1357-2725
Container-title:The International Journal of Biochemistry & Cell Biology
language:en
Short-container-title:The International Journal of Biochemistry & Cell Biology

Author:

Irfanullah ,Zeb Amir,Shinwari Naila,Shah Khadim,Gilani Syed Zohaib Tayyab,Khan Saadullah,Lee Keun Woo,Raza Syed Irfan,Hussain Shabir,Liaqat Khurram,Ahmad Wasim^ORCID

Funder

Higher Education Commission (HEC), Islamabad, Pakistan

HEC-Indigenous PhD scholarships

Publisher

Elsevier BV

Subject

Cell Biology,Biochemistry

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4. Mutations in the transmembrane natriuretic peptide receptor NPR-B impair skeletal growth and cause acromesomelic dysplasia, type Maroteaux;Bartels;Am. J. Hum. Genet.,2004

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1. Mutational analysis of consanguineous families and their targeted therapy against dwarfism;Journal of Biomolecular Structure and Dynamics;2024-02-07

2. Unveiling the pathogenic mechanisms of NPR2 missense variants: insights into the genotype-associated severity in acromesomelic dysplasia and short stature;Frontiers in Cell and Developmental Biology;2023-11-23

3. Roles of Local Soluble Factors in Maintaining the Growth Plate: An Update;Genes;2023-02-21

4. A Mild Skeletal Dysplasia Caused by a Biallelic Missense Variant in the SLC35D1 Gene;Molecular Syndromology;2023

5. Identification of Diagnostic Variants in FGFR2 and NPR2 Genes in a Chinese Family Affected by Crouzon Syndrome and Acromesomelic Dysplasia, Type Maroteaux;DNA and Cell Biology;2022-11-01