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Details Of NON Syndromic Child Disease

Disease Name phenotype Inheritance Mode Chr Location Mutation Type Gene Name mRNA Variant Protein Variant Effect Reference
Acromesomelic Dysplasia type Maroteaux (NPR2) Short middle & distal segments etc Autosomal Recessive 9p13.3 Missense NPR2 2720 C>T Thr907Met Amino Acid Substitution 0/Khan et al., 2012
Acromesomelic Dysplasia type Maroteaux (NPR2) Short middle & distal segments etc Autosomal Recessive 9p13.3 Splice site NPR2 2986+2 T>G Frame shift mutation 0/Khan et al., 2012
Acromesomelic Dysplasia type Maroteaux (NPR2) Short middle & distal segments etc Autosomal Recessive 9p13.3 Missense NPR2 1801C>A Arg601Ser Amino Acid Substitution 0/Irfanullah et al., 2015
Acromesomelic Dysplasia type Maroteaux (NPR2) Short middle & distal segments etc Autosomal Recessive 9p13.3 Missense NPR2 2245C>T Arg749Trp Amino Acid Substitution 0/Irfanullah et al., 2015
Acromesomelic Dysplasia type Maroteaux (NPR2) short stature,skeletal deformities Autosomal Recessive 9p13.3 Missense Mutation NPR2 941 T>G Leu314 Arg Amino acid substitution 0/Irfanullah et.al.,,,2018