Rothmund-Thomson syndrome: Two case reports show heterogeneous cutaneous abnormalities, an association with genetically programmed ageing changes, and increased chromosomal radiosensitivity

Journal of Medical Genetics

Volumn 33, Issue 11, 1996, Pages 928-934

  Kerr, B ^a   Ashcroft, G S ^b,c   Scott, D ^d   Horan, M A ^b   Ferguson, M W J ^c   Donnai, D ^a  

^a ST MARY S HOSPITAL   (United Kingdom)

^b MANCHESTER UNIVERSITY NHS FOUNDATION TRUST   (United Kingdom)

^c UNIVERSITY OF MANCHESTER   (United Kingdom)

^d CHRISTIE HOSPITAL   (United Kingdom)

Author keywords

DNA repair; Photoageing; Rothmund Thomson; Skin

Indexed keywords

ADOLESCENT; ADULT; AGING; ARTICLE; AUTOSOMAL RECESSIVE DISORDER; CASE REPORT; CHILD; CHROMOSOME ABERRATION; CONGENITAL CATARACT; CONGENITAL SKIN DISEASE; CONTROLLED STUDY; DNA REPAIR; FEMALE; HUMAN; HUMAN TISSUE; HYPOGONADISM; INTELLECT; MENTAL DEFICIENCY; PRIORITY JOURNAL; RADIOSENSITIVITY; SCANTY HAIR; SHORT STATURE; SKELETON MALFORMATION; TOOTH DISEASE;

EID: 0029805236     PISSN: 00222593     EISSN: None     Source Type: Journal    
DOI: 10.1136/jmg.33.11.928     Document Type: Article

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