Table 4.

Allelic Disorders

Gene(s)Allelic DisorderClinical Characteristics
ERCC1
ERCC2
ERCC5 		Cerebrooculofacioskeletal syndrome 1 (OMIM PS214150)See Differential Diagnosis.
ERCC2
ERCC3 		Trichothiodystrophy 1 (OMIM PS601675)See Differential Diagnosis.
ERCC4 Fanconi anemia Heterogeneous condition characterized by physical abnormalities, bone marrow failure, & ↑ risk for malignancy
1.

See Differential Diagnosis for other genes associated with this phenotype.

From: Xeroderma Pigmentosum

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