An intronic mutation in dkc1 in an infant with høyeraal-hreidarsson syndrome

American Journal of Medical Genetics, Part A

Volumn 146, Issue 16, 2008, Pages 2159-2161

  Pearson, Toni ^a   Curtis, Fiona ^b   Al Eyadhy, Ayman ^a   Al Tamemi, Salem ^a   Mazer, Bruce ^a   Dror, Yigal ^c   Abish, Sharon ^a   Bale, Sherri ^d   Compton, John ^c   Ray, Reena ^e   Scott, Patrick ^a,b   Der Kaloustian, Vazken M ^a,b  

^a MONTREAL CHILDREN S HOSPITAL   (Canada)

^b MCGILL UNIVERSITY HEALTH CENTRE   (Canada)

^c HOSPITAL FOR SICK CHILDREN   (Canada)

^d GENEDX   (United States)

^e Diagnostic Services of Manitoba Inc   (Canada)

Author keywords

[No Author keywords available]

Indexed keywords

IMMUNOGLOBULIN; PREDNISONE;

ANAMNESIS; BONE MARROW BIOPSY; CASE REPORT; COMPUTER ASSISTED TOMOGRAPHY; DEATH; DKC1 GENE; ELECTROENCEPHALOGRAM; GENE; GENE MUTATION; GENETIC ANALYSIS; GENETIC DISORDER; GENETIC IDENTIFICATION; GROWTH RETARDATION; HIGH ARCHED PALATE; HOYERAAL HREIDARSSON SYNDROME; HUMAN; INFANT; INTENSIVE CARE UNIT; INTRON; KARYOTYPE 46,XY; LABORATORY TEST; LETTER; LUNG HEMORRHAGE; MALE; NUCLEAR MAGNETIC RESONANCE IMAGING; PHYSICAL EXAMINATION; PRIORITY JOURNAL; SKELETON MALFORMATION; THROMBOCYTE COUNT; THROMBOCYTE TRANSFUSION; THROMBOCYTOPENIA; X CHROMOSOME INACTIVATION;

ABNORMALITIES, MULTIPLE; AMINO ACID SUBSTITUTION; CELL CYCLE PROTEINS; CEREBELLUM; DEVELOPMENTAL DISABILITIES; HUMANS; INFANT; INTRONS; MALE; MUTATION; NUCLEAR PROTEINS; RNA SPLICE SITES; SYNDROME;

EID: 49449113473     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.32412     Document Type: Letter

References (14)

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