Associated Papers
Novel OBSL1 Variant in a Chinese Patient with 3M Syndrome: The c.458dupG Mutation May Be a Potential Hotspot Mutation in the Chinese Population
Piao Y et al.
Journal of Clinical Research in Pediatric Endocrinology, 2024
Genetic Characterization of Short Stature Patients With Overlapping Features of Growth Hormone Insensitivity Syndromes.
Andrews A et al.
The Journal of Clinical Endocrinology and Metabolism, 2021
Impaired plasma membrane localization of ubiquitin ligase complex underlies 3-M syndrome development.
Wang P et al.
The Journal of Clinical Investigation, 2019
Whole-exome sequencing gives additional benefits compared to candidate gene sequencing in the molecular diagnosis of children with growth hormone or IGF-1 insensitivity.
Shapiro L et al.
European Journal of Endocrinology, 2017
The primordial growth disorder 3-M syndrome connects ubiquitination to the cytoskeletal adaptor OBSL1.
Hanson D et al.
American Journal of Human Genetics, 2009
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