Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders
Cranioectodermal dysplasia is an autosomal recessive disorder with congenital skeletal malformations and ectodermal defects. Ocular abnormalities include retinitis pigmentosa. The renal phenotype is a nephronophthisis. Different subforms are caused by different genes.
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Orphanet article Orphanet ID 1515
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Wikipedia article Wikipedia EN (Sensenbrenner_syndrome)
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