Variable presentation of Rothmund-Thomson syndrome

American Journal of Medical Genetics

Volumn 95, Issue 3, 2000, Pages 204-207

  Pujol, Lisa A ^a   Erickson, Robert P ^a   Heidenreich, Randall A ^a   Cunniff, Christopher ^a  

^a UNIVERSITY OF ARIZONA COLLEGE OF MEDICINE   (United States)

Author keywords

Growth hormone deficiency; Osteogenic sarcoma; Poikiloderma; Rothmund Thomson syndrome

Indexed keywords

GROWTH HORMONE; HELICASE;

ARTICLE; CASE REPORT; CHILD; CLINICAL FEATURE; FEMALE; FINGER MALFORMATION; GENE MUTATION; GENETIC VARIABILITY; GROWTH HORMONE DEFICIENCY; GROWTH RETARDATION; HORMONE RESPONSE; HORMONE SUBSTITUTION; HUMAN; MALE; OSTEOSARCOMA; PHENOTYPE; POIKILODERMA; PRIORITY JOURNAL; ROTHMUND THOMSON SYNDROME;

ABNORMALITIES, MULTIPLE; CHILD; ERYTHEMA; FOLLOW-UP STUDIES; HUMANS; INFANT, NEWBORN; MALE; NEOPLASMS, SECOND PRIMARY; OSTEOSARCOMA; ROTHMUND-THOMSON SYNDROME; SKIN DISEASES, GENETIC;

EID: 0034722841     PISSN: 01487299     EISSN: None     Source Type: Journal    
DOI: 10.1002/1096-8628(20001127)95:3<204::AID-AJMG4>3.0.CO;2-Q     Document Type: Article

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