Scalp Tumor and Hydroureteronephrosis in Patients with Nephronophthisis and Homozygous NPHP1 Deletion.
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DOI: 10.1177/00099228231162416
Abstract: Homozygous deletion of NPHP1 can lead to isolated nephronophthisis (NPHP) and syndromic disorders. However, the phenotype of scalp tumor and hydroureteronephrosis in NPHP patients with homozygous deletion of NPHP1 has not been reported. Clinical data,… read more here.
Keywords: scalp tumor; tumor hydroureteronephrosis; deletion; homozygous deletion ... See more keywords