Unraveling the pathogenesis of Hoyeraal-Hreidarsson syndrome, a complex telomere biology disorder

British Journal of Haematology

Volumn 170, Issue 4, 2015, Pages 457-471

  Glousker, Galina ^a   Touzot, Fabien ^b   Revy, Patrick ^b   Tzfati, Yehuda ^a   Savage, Sharon A ^c  

^a HEBREW UNIVERSITY OF JERUSALEM   (Israel)

^b INSERM   (France)

^c NATIONAL CANCER INSTITUTE   (United States)

Author keywords

Cerebellar hypoplasia; Dyskeratosis congenita; Hoyeraal Hreidarsson syndrome; Immunodeficiency; Telomere

Indexed keywords

DNA HELICASE; DYSKERIN; REGULATOR OF TELOMERE ELONGATION HELICASE 1; TELOMERIC REPEAT BINDING FACTOR 2; UNCLASSIFIED DRUG;

AICARDI GOUTIERES SYNDROME; APOPTOSIS; BONE MARROW DEPRESSION; CD4 LYMPHOCYTE COUNT; CEREBELLUM HYPOPLASIA; CLINICAL FEATURE; DEVELOPMENTAL STAGE; DIFFERENTIAL DIAGNOSIS; FLOW CYTOMETRY; GASTROINTESTINAL DISEASE; GENETIC DISORDER; GERMLINE MUTATION; HETEROZYGOSITY; HOMOZYGOSITY; HOYERAAL HREIDARSSON SYNDROME; HUMAN; IMMUNE DEFICIENCY; INTRAUTERINE GROWTH RETARDATION; LEUKOPLAKIA; MICROCEPHALY; MYELINATION; NAIL DYSTROPHY; NEUROLOGIC DISEASE; PANCYTOPENIA; PATHOGENESIS; PIGMENTATION; PRIORITY JOURNAL; PROTEIN FOLDING; PROTEIN MODIFICATION; PROTEIN MOTIF; PROTEIN STABILITY; REVIEW; SKIN PIGMENTATION; SUMOYLATION; SYMPTOMATOLOGY; TELOMERE; TELOMERE HOMEOSTASIS; TOXOPLASMOSIS; DYSKERATOSIS CONGENITA; GENETICS; INTELLECTUAL IMPAIRMENT; METABOLISM; MUTATION; PATHOLOGY;

DYSKERATOSIS CONGENITA; FETAL GROWTH RETARDATION; HUMANS; INTELLECTUAL DISABILITY; MICROCEPHALY; MUTATION; TELOMERE; TELOMERE HOMEOSTASIS;

EID: 84938139374     PISSN: 00071048     EISSN: 13652141     Source Type: Journal    
DOI: 10.1111/bjh.13442     Document Type: Review

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