Paraskevi Vogiatzi Nieves Perdigones Philip J Mason David B Wilson Monica Bessler
10.1002/pbc.24389
Pediatr Blood Cancer
2013 Jun;60(6):E4-6.
author_manuscript
https://pubmed.ncbi.nlm.nih.gov/23335200/
Cell Cycle Proteins / genetics Dyskeratosis Congenita / genetics Fetal Growth Retardation / genetics Intellectual Disability / genetics Microcephaly / genetics Nuclear Proteins / genetics Telomerase / genetics
Cell Cycle Proteins / genetics Dyskeratosis Congenita / genetics Fetal Growth Retardation / genetics Intellectual Disability / genetics Microcephaly / genetics Nuclear Proteins / genetics Telomerase / genetics Case Reports Research Support, N.I.H., Extramural Amino Acid Sequence Family Female Flow Cytometry Humans Male Molecular Sequence Data Mutation Pedigree Cell Cycle Proteins DKC1 protein, human Nuclear Proteins TERT protein, human Telomerase Hoyeraal Hreidarsson syndrome
PMC3860171
23335200
A family with Hoyeraal-Hreidarsson syndrome and four variants in two genes of the telomerase core complex
2013