Associated Papers
Mutational analysis of consanguineous families and their targeted therapy against dwarfism.
Khan F et al.
Journal of Biomolecular Structure & Dynamics, 2025
A novel variant in GNPNAT1 gene causing a spondylo-epi-metaphyseal dysplasia resembling PGM3-Desbuquois like dysplasia.
Elhossini RM et al.
American Journal of Medical Genetics. Part A, 2022
A second individual with rhizomelic spondyloepimetaphyseal dysplasia and homozygous variant in GNPNAT1.
Sabbagh Q et al.
European Journal of Medical Genetics, 2022
Novel form of rhizomelic skeletal dysplasia associated with a homozygous variant in GNPNAT1.
Ain NU et al.
Journal of Medical Genetics, 2021
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