The value of whole exome sequencing for genetic diagnosis in a patient with Bloom syndrome

MeSH terms

• Bloom Syndrome* / diagnosis
• Bloom Syndrome* / genetics
• Bloom Syndrome* / physiopathology
• Bloom Syndrome* / therapy
• Brachydactyly / diagnosis
• Brachydactyly / genetics
• Child, Preschool
• Contraindications, Drug
• Diagnosis, Differential
• Dwarfism* / diagnosis
• Dwarfism* / drug therapy
• Dwarfism* / genetics
• Exome Sequencing / methods*
• Female
• Genetic Association Studies
• Growth Charts
• Growth Hormone / adverse effects*
• Growth Hormone / therapeutic use
• Homozygote
• Humans
• Micrognathism / diagnosis
• Micrognathism / genetics
• Neoplasms / etiology
• Neoplasms / prevention & control
• RecQ Helicases / genetics*
• Risk Reduction Behavior
• Skin Abnormalities / diagnosis
• Skin Abnormalities / genetics