• 3-M syndrome - a primordial short stature disorder with novel <em>CUL7</em> mutation in two Indian patients
• 3-M syndrome associated with growth hormone deficiency: 18 year follow-up of a patient
• 3-M Syndrome: A Local Case Report
• 3M Syndrome: A Rare Cause of Short Stature
• 3M syndrome: a report of four cases in two families
• 3M syndrome: A Tunisian seven-cases series
• 3M syndrome: an easily recognizable yet underdiagnosed cause of proportionate short stature
• 3M syndrome: Evaluating the clinical and laboratory features and the response of the growth hormone treatment: Single center experience
• A Rare Cause of Short Stature: 3M Syndrome in a Patient with Novel Mutation in OBSL1 Gene
• A rare cause of syndromic short stature: 3M syndrome in three families
• An adult with 3-M syndrome
• An organelle-specific protein landscape identifies novel diseases and molecular mechanisms
• Anaesthesia and orphan disease: the child with 3M syndrome
• Ankyrin repeats of ANKRA2 recognize a PxLPxL motif on the 3M syndrome protein CCDC8
• Clinical and molecular genetic analysis of a patient with 3-M syndrome
• Clinical characteristics of four children with 3M syndrome and a literature review
• Clinical utility gene card for: 3-M syndrome - update 2013
• Clinical utility gene card for: 3M syndrome
• Clinical, molecular and histopathological features of short stature syndrome with novel CUL7 mutation in Yakuts: new population isolate in Asia
• Differential Diagnosis of the Short IGF-I-Deficient Child with Apparently Normal Growth Hormone Secretion
• Dwarfism with gloomy face: a new syndrome with features of 3-M syndrome
• Effect of recombinant human insulin-like growth factor 1 therapy in a child with 3-M syndrome-1 with <em>CUL</em>7 gene mutation
• Exome sequencing identifies CCDC8 mutations in 3-M syndrome, suggesting that CCDC8 contributes in a pathway with CUL7 and OBSL1 to control human growth
• Exploring the spectrum of 3-M syndrome, a primordial short stature disorder of disrupted ubiquitination
• Further expanding the mutational spectrum and investigation of genotype-phenotype correlation in 3M syndrome
• Genomic analysis of primordial dwarfism reveals novel disease genes
• Hip dislocation in 3-M syndrome: risk of misdiagnosis
• Identification of two CUL7 variants in two Chinese families with 3-M syndrome by whole-exome sequencing
• Identifying biological pathways that underlie primordial short stature using network analysis
• Impaired plasma membrane localization of ubiquitin ligase complex underlies 3-M syndrome development
• Is autosomal recessive Silver-Russel syndrome a separate entity or is it part of the 3-M syndrome spectrum?
• Longitudinal skeletal growth and growth plate morphological characteristics of chondro-tissue specific CUL7 knockout mice
• Marching towards personalized genomic medicine
• Maternal uniparental isodisomy and heterodisomy on chromosome 6 encompassing a CUL7 gene mutation causing 3M syndrome
• Mutations in CUL7, OBSL1 and CCDC8 in 3-M syndrome lead to disordered growth factor signalling
• Natural history of facial and skeletal features from neonatal period to adulthood in a 3M syndrome cohort with biallelic CUL7 or OBSL1 variants
• Novel mutation in <em>Cul7</em> gene in a family diagnosed with 3M syndrome
• Pre- and post-natal growth in two sisters with 3-M syndrome
• Pregnancy in 3M syndrome
• Prenatal and early diagnosis of Chinese 3-M syndrome patients with novel pathogenic variants
• Prenatal diagnosis and preimplantation genetics testing of 3M syndrome in a Chinese family with novel biallelic variants of CUL7
• Ramsay Hunt syndrome: long-term facial palsy outcome assessed face-to-face by three different grading scales and compared to patient self-assessment
• Severe short stature due to 3-M syndrome with a novel OBSL1 gene mutation
• Structural and functional insights into a novel homozygous missense pathogenic variant in <em>CUL7</em> identified in consanguineous Pakistani family
• The 3M complex maintains microtubule and genome integrity
• The 3M syndrome
• The association between dysregulated adipocytokines in early pregnancy and development of gestational diabetes
• The Effect of Combined Growth Hormone and a Gonadotropin-Releasing Hormone Agonist Therapy on Height in Korean 3-M Syndrome Siblings
• The genetics of 3-M syndrome: unravelling a potential new regulatory growth pathway
• Two Siblings with a Mutation in CCDC8 Presenting with Mild Short Stature: A Case of 3-M Syndrome
• Whole exome sequencing reveals a novel mutation in CUL7 in a patient with an undiagnosed growth disorder
• Whole-exome analysis of foetal autopsy tissue reveals a frameshift mutation in OBSL1, consistent with a diagnosis of 3-M Syndrome
• Whole-exome sequencing gives additional benefits compared to candidate gene sequencing in the molecular diagnosis of children with growth hormone or IGF-1 insensitivity