Výsledky vyhledávání - "Shadi Abuzer"

A novel variant of the human mitochondrial DnaJ protein, Tid1, associates with a human disease exhibiting developmental delay and polyneuropathy

Autor: Abdussalam Azem, Malay Patra, Orly Elpeleg, Bassam Abu-Libdeh, Motee Ashhab, Celeste Weiss, Shadi Abuzer, Muhammad Mahajnah, Amit Kessel

Publikováno v: Eur J Hum Genet

Here, we describe a single patient from a consanguineous family, who suffers from developmental delay, intellectual disability, hypermetropia, moderate alternating esotropia, unsteady gait, and peripheral polyneuropathy. Brain MRI revealed basal gang

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::701d482b18dd91194f7f0d0033ea5d4c
https://europepmc.org/articles/PMC6777446/

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