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Last Updated: 02/24/2026
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Found 54 publications
3M syndrome in Saudi Arabia: a case series study and literature review.
Journal: Frontiers in endocrinology
Published: July 15, 2025
Genetic analysis of a case of Miller-McKusick-Malvaux syndrome type 1 caused by CUL7 gene variant and a literature review
Journal: Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics
Published: May 15, 2025
An Update on 3M Syndrome: Review of Clinical and Molecular Aspects and Report of Additional Families.
Journal: American journal of medical genetics. Part A
Published: November 26, 2024
Clinical and molecular spectrum along with genotype-phenotype correlation of 25 patients diagnosed with 3 M syndrome: a study from Turkey.
Journal: European journal of pediatrics
Published: July 18, 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
Journal: Journal of clinical research in pediatric endocrinology
Published: February 26, 2024
Clinical characteristics of four children with 3M syndrome and a literature review
Journal: Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics
Published: June 27, 2023
Structural and functional insights into a novel homozygous missense pathogenic variant in CUL7 identified in consanguineous Pakistani family.
Journal: Journal of biomolecular structure & dynamics
Published: June 22, 2023
Prenatal diagnosis and preimplantation genetics testing of 3M syndrome in a Chinese family with novel biallelic variants of CUL7.
Journal: Molecular genetics & genomic medicine
Published: May 16, 2023
Longitudinal skeletal growth and growth plate morphological characteristics of chondro-tissue specific CUL7 knockout mice.
Journal: Annals of anatomy = Anatomischer Anzeiger : official organ of the Anatomische Gesellschaft
Published: February 20, 2023
3M syndrome: Evaluating the clinical and laboratory features and the response of the growth hormone treatment: Single center experience.
Journal: European journal of medical genetics
Published: May 24, 2022
Clinical and molecular genetic analysis of a patient with 3-M syndrome
Journal: Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics
Published: November 28, 2021
Natural history of facial and skeletal features from neonatal period to adulthood in a 3M syndrome cohort with biallelic CUL7 or OBSL1 variants.
Journal: European journal of medical genetics
Published: June 18, 2021
Last Updated: 02/24/2026