Rothmund-thomson syndrome

Orphanet Journal of Rare Diseases

Volumn 5, Issue 1, 2010, Pages

  Larizza, Lidia ^a   Roversi, Gaia ^a,b   Volpi, Ludovica ^a  

^a UNIVERSITY OF MILAN   (Italy)

^b NATIONAL CANCER INSTITUTE   (Italy)

Author keywords

[No Author keywords available]

Indexed keywords

RECQ HELICASE; RECQL4 PROTEIN, HUMAN;

ALOPECIA; ANNULAR PANCREAS; ANUS ATRESIA; ATAXIA TELANGIECTASIA; AUTOSOMAL RECESSIVE DISORDER; BLOOM SYNDROME; CATARACT; CLINICAL FEATURE; CONGENITAL BONE DISEASE; DIFFERENTIAL DIAGNOSIS; ECTODERMAL DYSPLASIA; ESOPHAGUS ATRESIA; FACE ERYTHEMA; GENE DELETION; GENETIC COUNSELING; GENODERMATOSIS; GENOTOXICITY; HEARING IMPAIRMENT; HUMAN; INTRON; LEUKOPENIA; LIFE EXPECTANCY; MISSENSE MUTATION; NEUTROPENIA; OSTEOSARCOMA; PACHYONYCHIA; POIKILODERMA; PULSED DYE LASER; PYLORUS STENOSIS; RASH; RECTOVAGINAL FISTULA; REVIEW; ROTHMUND THOMSON SYNDROME; SHORT STATURE; SKELETON MALFORMATION; SKIN CANCER; SURVIVAL RATE; TOOTH MALFORMATION; WERNER SYNDROME; FRAMESHIFT MUTATION; GENETICS; PATHOLOGY;

FRAMESHIFT MUTATION; HUMANS; RECQ HELICASES; ROTHMUND-THOMSON SYNDROME;

EID: 77449108543     PISSN: None     EISSN: 17501172     Source Type: Journal    
DOI: 10.1186/1750-1172-5-2     Document Type: Review

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