Telomere shortening by mutations in the RTEL1 helicase cause severe form of dyskeratosis congenita, Hoyerall-Hreidarsson syndrome

MeSH terms

• DNA Helicases / genetics*
• Dyskeratosis Congenita / genetics*
• Female
• Fetal Growth Retardation / genetics*
• Germ-Line Mutation*
• Humans
• Intellectual Disability / genetics*
• Male
• Microcephaly / genetics*
• Mutation*
• Mutation, Missense*