RECQL4 and Pure red cell aplasia: INHERITED GENETIC CONDITIONS:❖ Autosomal dominant disorder Li-Fraumeni, characterized by the germline mutation of the gene p53.❖ Inherited form of retinoblastoma, characterized by the germline mutation in RB1 gene.❖ Inherited autosomal recessive disorder Rothmund-Thomson syndrome, characterized by a mutation in the RECQL4 helicase gene.❖ Inherited autosomal recessive disorder Bloom syndrome.❖ Rare disorder Diamond–Blackfan anaemia characterized by congenital deficiency of red blood cell precursors resulting in pure red cell aplasia.