Hoyeraal-Hreidarsson Syndrome due to PARN Mutations: Fourteen Years of Follow-Up

Medicine & Life Sciences

• Hoyeraal Hreidarsson syndrome 100%
• Cerebellar Hypoplasia 33%
• Mutation 28%
• Fetal Growth Retardation 24%
• Oral Leukoplakia 21%
• Bone Marrow Failure Disorders 19%
• Esophageal Stenosis 19%
• Urethral Stricture 19%
• Skin Pigmentation 17%
• Nails 15%
• Anonychia congenita 14%
• Dyskeratosis Congenita 11%
• Central Nervous System 10%
• Microcephaly 8%
• Whole Exome Sequencing 8%
• Osteonecrosis 8%
• Germ-Line Mutation 8%
• Myelodysplastic Syndromes 8%
• Telomere 8%
• Genetic Counseling 8%
• Cell Transplantation 7%
• Hip 6%
• Early Diagnosis 5%
• Infections 3%