" /> Cerebrooculofacioskeletal syndrome 4 - CISMeF





Preferred Label : Cerebrooculofacioskeletal syndrome 4;

Symbol : COFS4;

CISMeF acronym : COFS4;

Type : Phenotype, molecular basis known;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the excision-repair cross-complementing group 1 gene (ERCC1, 126380.0001);

Laboratory abnormalities : Patient cells show a defect in transcription-coupled and global genome nucleotide excision repair;

Prefixed ID : #610758;

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27/07/2025


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