Natural history of facial and skeletal features from neonatal period to adulthood in a 3M syndrome cohort with biallelic CUL7 or OBSL1 variants
Author:
Publisher
Elsevier BV
Subject
Genetics (clinical),Genetics,General Medicine
Reference29 articles.
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2. 3M syndrome: an easily recognizable yet underdiagnosed cause of proportionate short stature;Al-Dosari;J. Pediatr.,2012
3. Genetic characterization of short stature patients with overlapping features of growth hormone insensitivity syndromes;Andrews;J. Clin. Endocrinol. Metab.,2021
4. Hip dislocation in 3-M syndrome: risk of misdiagnosis;Badina;Clin. Dysmorphol.,2011
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1. Clinical and Molecular Spectrum Along With Genotype-Phenotype Correlation of 25 Patients Diagnosed With 3M Syndrome: A Study from Turkey;2024-08-19
2. Longitudinal skeletal growth and growth plate morphological characteristics of chondro-tissue specific CUL7 knockout mice;Annals of Anatomy - Anatomischer Anzeiger;2024-04
3. 3M syndrome patient with a novel mutation: A case report;World Journal of Clinical Cases;2024-03-16
4. Investigation of (Epi)genetic causes in syndromic short children born small for gestational age;European Journal of Medical Genetics;2023-11
5. Chinese patients with 3M syndrome: clinical manifestations and two novel pathogenic variants;Frontiers in Genetics;2023-08-31
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