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An Update of Phenotypic-Genotypic IMNEPD Cases and a Bioinformatics Analysis of the New PTRH2 Gene Variants

Rajech Sharkia,Marie-Laure Vuillaume,Sahil Jain,Muhammad Mahajnah,Radka Stoeva,Agnes Guichet,Estelle Colin, Jerome Champ,Nicolas Derive, Arnaud Chefdor,Abdelnaser Zalan

GENES（2024）

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Key words
<italic>PTRH2</italic> gene,PTRH2 variants,IMNEPD,clinical features,rare genetic diseases,autosomal recessive disorder,bioinformatics analysis
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