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ENCerebrooculofacioskeletal Syndrome 1 (COFS1)
Alias:
Cofs Syndrome
Pena-Shokeir Syndrome Type 2
Cerebrooculofacioskeletal Syndrome
Cofs1
Cerebrooculofacioskeletal Syndrome, Type 1 (cofs-1
Cerebro-Oculo-Facio-Skeletal Syndrome 1
Pena-Shokeir Syndrome, Type Ii
Pena Shokeir Syndrome Type 2
Cofs
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Cerebrooculofacioskeletal Syndrome 1, also known as cofs syndrome, is related to cerebrooculofacioskeletal syndrome 2 and cerebrooculofacioskeletal syndrome 3. An important gene associated with Cerebrooculofacioskeletal Syndrome 1 is ERCC6 (ERCC Excision Repair 6, Chromatin Remodeling Factor), and among its related pathways/superpathways are Homology Directed Repair and Transcription-Coupled Nucleotide Excision Repair (TC-NER). Affiliated tissues include eye and spinal cord, and related phenotypes are cerebral calcification and hypotonia
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