Bi-allelic germline mutations of PALB2 (also known as FANCN) are responsible for the Fanconi anemia (FA) subtype N. Patients affected with this disease show a more severe phenotype compared to other FA subtypes, including growth retardation, variable congenital malformations and predisposition to paediatric malignancies [31]. The gene discussed is PALB2; the disease is Friedreich ataxia.