Associated Papers
Expanding the HPSE2 Genotypic Spectrum in Urofacial Syndrome, A Disease Featuring a Peripheral Neuropathy of the Urinary Bladder.
Beaman GM et al.
Frontiers in Genetics, 2022
Dual diagnosis of Ochoa syndrome and Niemann-Pick disease type B in a consanguineous family.
Cesur Baltacı HN et al.
Journal of Pediatric Endocrinology & Metabolism : Jpem, 2021
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