Buscar
Mostrando ítems 1-1 de 1
Artículo
Co-segregation of a homozygous SMN1 deletion and a heterozygous PMP22 duplication in a patient
(Wiley Open Access, 2016-07-03)
Despite co-segregation of two different genetic neurological disorders within a family is rare, clinicians should take into consideration this possibility in patients presenting with unusual complex phenotypes or with ...