Associated Papers
Exome Sequencing Reveals Novel Variants in Genetic Skeletal Disorders: Insights From a Cohort in Southwest Iran.
Zabihi R et al.
Clinical Genetics, 2026
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
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
The Effect of Combined Growth Hormone and a Gonadotropin-Releasing Hormone Agonist Therapy on Height in Korean 3-M Syndrome Siblings.
Lee IK et al.
Yonsei Medical Journal, 2020
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 3M syndrome.
Huber C et al.
Best Practice & Research. Clinical Endocrinology & Metabolism, 2011
OBSL1 mutations in 3-M syndrome are associated with a modulation of IGFBP2 and IGFBP5 expression levels.
Huber C et al.
Human Mutation, 2010
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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