• <em>MED12</em>-Related (Neuro)Developmental Disorders: A Question of Causality
• A girl with the Lujan-Fryns syndrome
• A novel MED12 mutation: Evidence for a fourth phenotype
• A novel nonsense variant in <em>MED12</em> associated with malformations in a female fetus
• A novel variant in MED12 gene: Further delineation of phenotype
• Aortic root dilation in apparent Lujan-Fryns syndrome
• Blepharophimosis, short humeri, developmental delay and hirschsprung disease: expanding the phenotypic spectrum of MED12 mutations
• Characterization of a new X-linked mental retardation syndrome with microcephaly, cortical malformation, and thin habitus
• Chromosome X-linked mental retardation and marfanoid syndrome
• De novo mutations in genes of mediator complex causing syndromic intellectual disability: mediatorpathy or transcriptomopathy?
• Eating disorder in a patient with phenotypical features of Lujan-Fryns syndrome
• Excess of de novo variants in genes involved in chromatin remodelling in patients with marfanoid habitus and intellectual disability
• Exome sequencing in children of women with skewed X-inactivation identifies atypical cases and complex phenotypes
• Eye and ocular adnexa manifestations of <em>MED12</em>-related disorders
• Lujan-Fryns syndrome
• Lujan-Fryns Syndrome (LFS): A Unique Combination of Hypernasality, Marfanoid Body Habitus, and Neuropsychiatric Issues, Presenting as Acute-Onset Dysphagia
• Lujan-Fryns syndrome (mental retardation, X-linked, marfanoid habitus)
• Lujan-Fryns syndrome (X-linked mental retardation with marfanoid habitus): report of three cases and review
• Lujan-Fryns syndrome in the differential diagnosis of schizophrenia
• Lujan-Fryns Syndrome Phenotype with Autism-Like Behavior and Atypical Psychotic Symptoms: Case Report
• Marfanoid features and X-linked mental retardation associated with craniofacial abnormalities: the Lujan-Fryns syndrome
• Marfanoid habitus, inguinal hernia, advanced bone age, and distinctive facial features: a new collagenopathy?
• MED12 missense mutation in a three-generation family. Clinical characterization of MED12-related disorders and literature review
• MED12 Mutation in Two Families with X-Linked Ohdo Syndrome
• MED12 mutations in human diseases
• MED12 related disorders
• Missense MED12 variants in 22 males with intellectual disability: From nonspecific symptoms to complete syndromes
• Mutations in UPF3B, a member of the nonsense-mediated mRNA decay complex, cause syndromic and nonsyndromic mental retardation
• Mutations of the UPF3B gene, which encodes a protein widely expressed in neurons, are associated with nonspecific mental retardation with or without autism
• Neuropsychological evaluation in Lujan-Fryns syndrome: commentary and clinical report
• Preserved neurobehavioral abilities in Lujan-Fryns syndrome
• Psychiatric symptomatology of Lujan-Fryns syndrome: an X-linked syndrome displaying Marfanoid symptoms with autistic features, hyperactivity, shyness and schizophreniform symptoms
• Psychopathology in the Lujan-Fryns syndrome: report of two patients and review
• Severe mental retardation with marfanoid habitus in a young Lebanese male. A diagnostic challenge
• Syndromic autism: II. Genetic syndromes associated with autism
• Systematic molecular and cytogenetic screening of 100 patients with marfanoid syndromes and intellectual disability
• Tentative clinical diagnosis of Lujan-Fryns syndrome--A conglomeration of different genetic entities?
• Terminal deletion of chromosome 5p in a patient with phenotypical features of Lujan-Fryns syndrome
• The clinical phenotype in institutionalised adult males with X-linked mental retardation (XLMR)
• The original Lujan syndrome family has a novel missense mutation (p.N1007S) in the MED12 gene
• The power of the Mediator complex-Expanding the genetic architecture and phenotypic spectrum of MED12-related disorders
• Two male sibs with severe micrognathia and a missense variant in MED12
• X-linked mental retardation with marfanoid habitus
• X-linked mental retardation with marfanoid habitus: first report of four Italian patients