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Last Updated: 09/18/2022

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Found 5 publications

Improvement of SLC29A3 spectrum disorder-related sensorineural hearing loss after initiation of IL-6 inhibitor.

Summary: Improvement of SLC29A3 spectrum disorder-related sensorineural hearing loss after initiation of IL-6 inhibitor.

Clinical Peculiarities in a Cohort of Patients with Wolfram Syndrome 1.

Summary: Clinical Peculiarities in a Cohort of Patients with Wolfram Syndrome 1.

Case Report: A Chinese Family of Woodhouse-Sakati Syndrome With Diabetes Mellitus, With a Novel Biallelic Deletion Mutation of the DCAF17 Gene.

Summary: Case Report: A Chinese Family of Woodhouse-Sakati Syndrome With Diabetes Mellitus, With a Novel Biallelic Deletion Mutation of the DCAF17 Gene.

Kallmann Syndrome Due to Heterozygous Mutation in SOX10 Coexisting With Waardenburg Syndrome Type II: Case Report and Review of Literature.

Summary: Kallmann Syndrome Due to Heterozygous Mutation in SOX10 Coexisting With Waardenburg Syndrome Type II: Case Report and Review of Literature.

Wolfram syndrome: clinical and genetic profiling of a cohort from a tertiary care centre with characterization of the primary gonadal failure.

Summary: Wolfram syndrome: clinical and genetic profiling of a cohort from a tertiary care centre with characterization of the primary gonadal failure.
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Last Updated: 09/18/2022