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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
Atrichia with papular lesions (HR) Complete hair loss Autosomal Recessive 8p21.3 Nonsense HR 2541G>A Trp847* Premature Termination 0/Mehmood et al., 2015
Atrichia with papular lesions (HR) Complete hair loss Autosomal Recessive 8p21.3 Missense HR 854G>A Gly285Ser Amino Acid Substitution 0/Ahmed et al., 2013
Atrichia with papular lesions (HR) Complete hair loss Autosomal Recessive 8p21.3 Missense HR Thr1022Ala Amino Acid Substitution 0/Ahmad et al., 1998
Atrichia with papular lesions (HR) Complete hair loss Autosomal Recessive 8p21.3 Missense HR 3407T>A Val1136Asp Amino Acid Substitution 0/Cichon et al., 1998
Atrichia with papular lesions (HR) Complete hair loss Autosomal Recessive 8p21.3 Nonsense HR 1432C>T Glu478* Premature Termination 0/Sprecher et al., 1999
Atrichia with papular lesions (HR) Complete hair loss Autosomal Recessive 8p21.3 Deletion HR 431delC Frame shift mutation 0/John et al., 2005
Atrichia with papular lesions (HR) Complete hair loss Autosomal Recessive 8p21.3 Deletion HR 2021delG Frame shift mutation 0/John et al., 2005
Atrichia with papular lesions (HR) Complete hair loss Autosomal Recessive 8p12 Insertion HR 202Ins11bp Frame shift mutation 0/Wali et al., 2006
Atrichia with papular lesions (HR) Complete hair loss Autosomal Recessive 8p21.3 Nonsense HR Gln323* Premature Termination 0/kim et al., 2007
Atrichia with papular lesions (HR) Complete hair loss Autosomal Recessive 8p21.3 Nonsense HR Gln502* Premature Termination 0/kim et al., 2007
Atrichia with papular lesions (HR) Complete hair loss Autosomal Recessive 8p21.3 Nonsense HR Arg940* Premature Termination 0/kim et al., 2007
Atrichia with papular lesions (HR) Complete hair loss Autosomal Recessive 8p21.3 Nonsense HR Cys690* Premature Termination 0/Azeem et al., 2011
Atrichia with papular lesions (HR) Complete hair loss Autosomal Recessive 8p21.3 Nonsense HR Arg819* Premature Termination 0/Azeem et al., 2011
Atrichia with papular lesions (HR) Complete hair loss Autosomal Recessive 8p21.3 Missense HR Pro1157Arg Amino Acid Substitution 0/Azeem et al., 2011