Article
Biallelic variants in COPB1 cause a novel, severe intellectual disability syndrome with cataracts and variable microcephaly.
Genome medicine - 25 Feb 2021
Macken William L, Godwin Annie, Wheway Gabrielle, Stals Karen, Nazlamova Liliya, Ellard Sian, Alfares Ahmed, Aloraini Taghrid, AlSubaie Lamia, Alfadhel Majid, Alajaji Sulaiman, Wai Htoo A, Self Jay, Douglas Andrew G L, Kao Alexander P, Guille Matthew, Baralle Diana
Abstract excerpt
BACKGROUND: Coat protein complex 1 (COPI) is integral in the sorting and retrograde trafficking of proteins and lipids from the Golgi apparatus to the endoplasmic reticulum (ER). In recent years, coat proteins have been implicated in human diseases known collectively as "coatopathies". METHODS: Whole exome or genome sequencing of two families with a neuro-developmental syndrome, variable microcephaly and...
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