Rothmund-Thomson syndrome due to RECQ4 helicase mutations: Report and clinical and molecular comparisons with Bloom syndrome and Werner syndrome

American Journal of Medical Genetics

Volumn 90, Issue 3, 2000, Pages 223-228

  Lindor, Noralane M ^a   Furuichi, Yasuhiro ^b   Kitao, Saori ^b   Shimamoto, Akiro ^b   Arndt, Carola ^a   Jalal, Syed ^a  

^a MAYO CLINIC   (United States)

^b AGENE Research Institute   (Japan)

Author keywords

Bloom syndrome; Helicase; Osteosarcoma; Poikiloderma; Rothmund Thomson syndrome; Werner syndrome

Indexed keywords

HELICASE;

ADULT; ARTICLE; AUTOSOMAL RECESSIVE DISORDER; BLOOM SYNDROME; CANCER SUSCEPTIBILITY; CASE REPORT; DIFFERENTIAL DIAGNOSIS; GENE DELETION; GENE MUTATION; GENETIC SUSCEPTIBILITY; GROWTH RETARDATION; HETEROZYGOTE; HUMAN; MALE; NUCLEIC ACID BASE SUBSTITUTION; OSTEOSARCOMA; POIKILODERMA; PREMATURE AGING; PRIORITY JOURNAL; ROTHMUND THOMSON SYNDROME; WERNER SYNDROME;

ADULT; BASE SEQUENCE; BLOOM SYNDROME; CHILD; DNA; DNA HELICASES; HUMANS; KARYOTYPING; MALE; MUTATION; PEDIGREE; ROTHMUND-THOMSON SYNDROME; WERNER SYNDROME;

EID: 0034737004     PISSN: 01487299     EISSN: None     Source Type: Journal    
DOI: 10.1002/(SICI)1096-8628(20000131)90:3<223::AID-AJMG7>3.0.CO;2-Z     Document Type: Article

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