Implications of identification of LAMA1 mutations for patients with presumed Joubert syndrome

READ THE PAPER: https://bit.ly/2Ww0g0R Powell, Olinger et al. report four gene panel-negative kindreds with presumed Joubert syndrome where critical review of clinico-radiological data coupled with exome sequencing re-assigned a corrected diagnosis of Poretti-Boltshauser syndrome with prognostic implications. Phenotypic overlap and limited disease hallmark recognition advocate for broad, unbiased genetic testing in rare neurodevelopmental disorders.