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ENRetinitis Pigmentosa with or Without Skeletal Anomalies (RPSKA)
Alias:
Metaphyseal Chondrodysplasia-Retinitis Pigmentosa Syndrome
Metaphyseal Chondrodysplasia with Retinitis Pigmentosa
Rpska
Brachydactyly-Short Stature-Retinitis Pigmentosa Syndrome
Retinitis Pigmentosa, with/without Skeletal Anomalies
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Retinitis Pigmentosa with or Without Skeletal Anomalies, is also known as metaphyseal chondrodysplasia-retinitis pigmentosa syndrome. An important gene associated with Retinitis Pigmentosa with or Without Skeletal Anomalies is CWC27 (CWC27 Spliceosome Associated Cyclophilin). Affiliated tissues include eye and bone, and related phenotypes are abnormal facial shape and short stature
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