Associated Papers
3-M syndrome: evolution of the phenotype over time.
Bacchi I et al.
Italian Journal of Pediatrics, 2025
41437277 (PubMed )
Supplement: 13052_2025_2172_MOESM1_ESM.xlsx › S2_OBSL1
Clinical and molecular spectrum along with genotype-phenotype correlation of 25 patients diagnosed with 3 M syndrome: a study from Turkey.
Akalın A et al.
European Journal of Pediatrics, 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
Diagnostic exome-based preconception carrier testing in consanguineous couples: results from the first 100 couples in clinical practice.
Sallevelt SCEH et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2021
Three M syndrome 2 in two Indian patients.
Jacob P et al.
American Journal of Medical Genetics. Part A, 2021
Further expanding the mutational spectrum and investigation of genotype-phenotype correlation in 3M syndrome.
Simsek-Kiper PO et al.
American Journal of Medical Genetics. Part A, 2019
Rapid prenatal diagnosis using targeted exome sequencing: a cohort study to assess feasibility and potential impact on prenatal counseling and pregnancy management.
Chandler N et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2018
Prenatal and early diagnosis of Chinese 3-M syndrome patients with novel pathogenic variants.
Hu X et al.
Clinica Chimica Acta; International Journal of Clinical Chemistry, 2017
A Rare Cause of Short Stature: 3M Syndrome in a Patient with Novel Mutation in OBSL1 Gene.
Keskin M et al.
Journal of Clinical Research in Pediatric Endocrinology, 2017
Mutations in CUL7, OBSL1 and CCDC8 in 3-M syndrome lead to disordered growth factor signalling.
Hanson D et al.
Journal of Molecular Endocrinology, 2012
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