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
Genetic Insights into Familial Hypospadias Identifying Rare Variants and Their Potential Role in Urethral Development.
Al-Shafai KN et al.
Genes, 2025
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
Prenatal diagnosis of fetal skeletal anomalies via whole-exome sequencing in a tertiary referral center.
Xue H et al.
Scientific Reports, 2024
Preliminary investigation into the genetic etiology of short stature in children through whole exon sequencing of the core family.
He J et al.
Open Life Sciences, 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
[Clinical characteristics of four children with 3M syndrome and a literature review].
Xu N et al.
Zhonghua Yi Xue Yi Chuan Xue Za Zhi = Zhonghua Yixue Yichuanxue Zazhi = Chinese Journal of Medical Genetics, 2023
Chinese patients with 3M syndrome: clinical manifestations and two novel pathogenic variants.
Xu N et al.
Frontiers in Genetics, 2023
[Clinical and molecular genetic analysis of a patient with 3-M syndrome].
Huang Y et al.
Zhonghua Yi Xue Yi Chuan Xue Za Zhi = Zhonghua Yixue Yichuanxue Zazhi = Chinese Journal of Medical Genetics, 2021
Study on pathogenic genes of dwarfism disease by next-generation sequencing.
Yang LL et al.
World Journal of Clinical Cases, 2021
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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