Molecular diagnosis in recessive pediatric neurogenetic disease can help reduce disease recurrence in families.
Mahmoud Y IssaZinayida ChechlaczValentina StanleyRenee D GeorgeJennifer McEvoy-VenneriDenice BelandresHasnaa M ElbendaryKhaled R GaberAhmed NabilMohamed S Abdel-HamidMaha S ZakiJoseph G GleesonPublished in: BMC medical genomics (2020)
Molecular diagnosis in an older child, coupled with prenatal fetal genotyping in subsequent pregnancies and genetic counselling, allows families to make informed decisions to reduce recessive neurogenetic disease recurrence.