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Elizabeth Kellom

Genetic Counselor · University of Wisconsin School of Medicine and Public Health

Credentials: · ·

History

University of Wisconsin School of Medicine and Public Health
Present

Research

Ocular evaluation and genetic test for an early Alström Syndrome diagnosis
Case report · American Journal of Ophthalmology Case Reports · 2020 · 10 citations
Biotinidase deficiency is a rare, potentially treatable cause of peripheral neuropathy with or without optic neuropathy in adults
Case report · Molecular Genetics and Metabolism Reports · 2021 · First of 4 authors · Corresponding · 5 citations
Bilateral retinal dystrophy and unilateral hearing loss caused by mosaic phosphoribosyl pyrophosphate synthetase 1 deficiency: expanding the spectrum of an ultrarare neurometabolic…
Case report · Ophthalmic Genetics · 2025 · 1 citations

Kimberly Stepien
4 papers
GR
Gregory Rice
2 papers
Ashley Kuhl
1 paper
CR
Charite Ricker
1 paper
Laura Birkeland
1 paper
LH
Leslie Huang
1 paper · 1 as a resident
Melanie Schmitt
1 paper
Pankaj Prasun
1 paper
Tyler Etheridge
1 paper
Yanjun Chen
1 paper