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
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
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
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