One heterozygous deletion within 16q22.3-q23.1 including FA2H was observed in two siblings who share symptoms of autism and severe cognitive impairment axial T2-FLAIR weighted MRI posterior periventricular white matter lesions.
Identification of a novel triple heterozygous mutations in FA2H gene (c.968C>A; c.976G>A; c.688G>A) in a Chinese family with Hereditary Spastic Paraplegia Type 35.
a novel homozygous c.270+3A>T mutation altered FA2H function led to a severe phenotype with clinical features overlapping those in three FA2H-associated disorders
We'd like to inform you that we have updated our Privacy Notice to comply with Europe’s new General Data Protection Regulation (GDPR) that applies since 25 May 2018.