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
Expanding OBSL1 Mutation Phenotype: Disproportionate Short Stature, Barrel Chest, Thoracic Kyphoscoliosis, Hypogonadism, and Hypospadias.
Koprulu M et al.
The Yale Journal of Biology and Medicine, 2023
37780995 (PubMed )
Supplement: yjbm_96_3_367_appendixA.pdf
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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