Associated Papers
3-M syndrome: evolution of the phenotype over time.
Bacchi I et al.
Italian Journal of Pediatrics, 2025
Exome sequencing and prenatal skeletal abnormalities: comprehensive review and meta-analysis and way forward.
Jiang M et al.
Frontiers in Genetics, 2025
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
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
Regionally enriched rare deleterious exonic variants in the UK and Ireland.
Halachev M et al.
Nature Communications, 2024
3M syndrome: Evaluating the clinical and laboratory features and the response of the growth hormone treatment: Single center experience.
Karacan Küçükali G et al.
European Journal of Medical Genetics, 2023
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
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
A data set of variants derived from 1455 clinical and research exomes is efficient in variant prioritization for early-onset monogenic disorders in Indians.
Kausthubham N et al.
Human Mutation, 2021
Three M syndrome 2 in two Indian patients.
Jacob P et al.
American Journal of Medical Genetics. Part A, 2021
A rare cause of syndromic short stature: 3M syndrome in three families.
Isik E et al.
American Journal of Medical Genetics. Part A, 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
Optimizing clinical exome design and parallel gene-testing for recessive genetic conditions in preconception carrier screening: Translational research genomic data from 14,125 exomes.
Capalbo A et al.
Plos Genetics, 2019
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
Assessing the Pathogenicity, Penetrance, and Expressivity of Putative Disease-Causing Variants in a Population Setting.
Wright CF et al.
American Journal of Human Genetics, 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
Whole-exome analysis of foetal autopsy tissue reveals a frameshift mutation in OBSL1, consistent with a diagnosis of 3-M Syndrome.
Marshall CR et al.
Bmc Genomics, 2015
Clinical utility gene card for: 3-M syndrome - update 2013.
Holder-Espinasse M et al.
European Journal of Human Genetics : Ejhg, 2014
3-M syndrome: a growth disorder associated with IGF2 silencing.
Murray PG et al.
Endocrine Connections, 2013
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
The 3M syndrome.
Huber C et al.
Best Practice & Research. Clinical Endocrinology & Metabolism, 2011
The genetics of 3-M syndrome: unravelling a potential new regulatory growth pathway.
Hanson D et al.
Hormone Research in Paediatrics, 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