Further delineation of the congenital form of X-linked dyskeratosis congenita (Hoyeraal-Hreidarsson syndrome)

European Journal of Pediatrics

Volumn 162, Issue 12, 2003, Pages 863-867

  Sznajer, Yves ^a   Baumann, Clarisse ^a   David, Albert ^b   Journel, Hubert ^c   Lacombe, Didier ^d   Perel, Yves ^d   Blouin, Pascale ^d   Segura, Jean François ^a   Cezard, Jean Pierre ^a   Peuchmaur, Michel ^a   Vulliamy, Tomy ^e   Dokal, Inderjeet ^e   Verloes, Alain ^a  

^a HÔPITAL ROBERT DEBRÉ   (France)

^b Hopital Mere Enfant CHU de Nantes   (France)

^c Department of Clinical Genetics ^*  (France)

^d HÔPITAL PELLEGRIN   (France)

^e HAMMERSMITH HOSPITAL   (United Kingdom)

Author keywords

Diarrhoea; DKC1 gene; Hoyeraal Hreidarsson syndrome; X linked dyskeratosis

Indexed keywords

APLASTIC ANEMIA; ARTICLE; CAUSE OF DEATH; CHILD DEVELOPMENT; CLINICAL ARTICLE; COMBINED IMMUNODEFICIENCY; DIARRHEA; DKC1 GENE; DYSKERATOSIS CONGENITA; FAMILY; FEMALE; GASTROSTOMY; GENE; GENE MUTATION; HISTOPATHOLOGY; HOYERAAL HREIDARSSON SYNDROME; HUMAN; HUMAN TISSUE; INTESTINE BIOPSY; INTRAUTERINE GROWTH RETARDATION; MALE; MICROCEPHALY; MISSENSE MUTATION; MUTATIONAL ANALYSIS; PEDIGREE ANALYSIS; PRESCHOOL CHILD; PRIORITY JOURNAL; PROTEIN FUNCTION; X CHROMOSOME LINKAGE;

CELL CYCLE PROTEINS; DIARRHEA; DYSKERATOSIS CONGENITA; ESOPHAGEAL MOTILITY DISORDERS; HUMANS; INFANT, NEWBORN; INTESTINAL MUCOSA; MALE; MUTATION, MISSENSE; NUCLEAR PROTEINS; SYNDROME;

EID: 10744229510     PISSN: 03406199     EISSN: None     Source Type: Journal    
DOI: 10.1007/s00431-003-1317-5     Document Type: Article

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