3M Syndrome Latest Advances

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