A novel missense variant in the ATPase domain of ATP8A2 and review of phenotypic variability of -related disorders caused by missense changes.

Journal: medRxiv : the preprint server for health sciences

Publication Year: 

Authors & Co-authors:  Flannery Kyle P KP Safwat Sylvia S Matsell Eli E Battula Namarata N Hamed Ahlam A A AAA Mohamed Inaam N IN Elseed Maha A MA Koko Mahmoud M Abubaker Rayan R Abozar Fatima F

Duane retraction syndrome in a patient with Duchenne muscular dystrophy.

Journal: Ophthalmic genetics

Publication Year: 2017

Authors & Co-authors:  Bosley Thomas M TM Salih Mustafa A MA Alkhalidi Hisham H Oystreck Darren T DT El Khashab Heba Y HY Kondkar Altaf A AA Abu-Amero Khaled K KK