• A novel variant in WNT5A responsible for Robinow syndrome in a male fetus with limb shortening and agenesis of the penis
• A very rare syndrome and its rare urological complication: Incomplet bladder duplication in Robinow syndrome
• Aarskog-scott syndrome (AAS): a case report
• Aarskog-Scott syndrome and atopic dermatitis successfully treated with dupilumab: a casual presentation?
• Aortic root aneurysm in a patient with Aarskog-Scott syndrome
• Cushing disease due to a somatic <em>USP8</em> mutation in a patient with evolving pituitary hormone deficiencies due to a germline <em>GH1</em> splicing variant
• Different Cases of Short Stature
• Exploring the Micro-Mosaic Landscape of <em>FGFR3</em> Mutations in the Ageing Male Germline and Their Potential Implications in Meiotic Differentiation
• Fetal phenotype and diagnosis of autosomal dominant Robinow syndrome due to novel DVL1 variant
• FGD1-related Aarskog-Scott syndrome: Identification of four novel variations and a literature review of clinical and molecular aspects
• First report on the isolation of Chlamydia abortus from female dromedary camels with ovarian hydrobursitis
• Hmga2 deficiency is associated with allometric growth retardation, infertility, and behavioral abnormalities in mice
• Megacolon as a Feature of Suspected Robinow Syndrome
• Mutation of the Thap4 gene causes dwarfism and testicular anomalies in rats and mice
• Novel truncating variants in FGD1 detected in two Danish families with Aarskog-Scott syndrome and myopathic features
• Novel variants in KAT6B spectrum of disorders expand our knowledge of clinical manifestations and molecular mechanisms
• Phenotypic and mutational spectrum of ROR2-related Robinow syndrome
• Phenotypic continuum between POLE-related recessive disorders: A case report and literature review
• Prenatal diagnosis of ROR-2 related Robinow syndrome presenting with fetal ultrasound findings of mesomelia, vertebral, digital and genital abnormalities
• Prenatal ultrasound signs of Aarskog-Scott syndrome in a twin pregnancy: A case report
• Quantitative DNA Methylation Analysis and Epigenotype-Phenotype Correlations in Taiwanese Patients with Silver-Russell Syndrome
• Specific PIWI-Interacting RNAs and Related Small Noncoding RNAs Are Associated With Ovarian Aging in Ames Dwarf (df/df) Mice
• The DNMT3A ADD domain is required for efficient de novo DNA methylation and maternal imprinting in mouse oocytes
• Velopharyngeal Characteristics in Aarskog-Scott Syndrome: A Case Report