Trichorhinophalangeal syndrome type i. Clinical and molecular characterization of 3 members of a family and 1 sporadic case

Archives of Dermatology

Volumn 137, Issue 11, 2001, Pages 1437-1442

  Seitz, Cornelia Sabine ^a   Lüdecke, Hermann Josef ^b   Wagner, Nicola ^a   Bröcker, Eva Bettina ^a   Hamm, Henning ^a  

^a UNIVERSITY OF WÜRZBURG   (Germany)

^b UNIVERSITY HOSPITAL ESSEN   (Germany)

Author keywords

[No Author keywords available]

Indexed keywords

ADULT; ARTICLE; AUTOSOMAL DOMINANT DISORDER; AUTOSOMAL DOMINANT INHERITANCE; CASE REPORT; CHROMOSOME 8Q; CLINICAL FEATURE; FEMALE; GENE DELETION; GENE MUTATION; GENETIC ANALYSIS; GENETIC VARIABILITY; HUMAN; MOLECULAR BIOLOGY; MOLECULAR CLONING; PRIORITY JOURNAL; RNA TRANSLATION; TRICHORHINOPHALANGEAL SYNDROME TYPE 1;

ABNORMALITIES, MULTIPLE; ADULT; BONE DISEASES, DEVELOPMENTAL; CRANIOFACIAL ABNORMALITIES; DNA MUTATIONAL ANALYSIS; FEMALE; FINGERS; GENE DELETION; HAIR; HETEROZYGOTE DETECTION; HUMANS; MIDDLE AGED; MUTATION, MISSENSE; SYNDROME;

EID: 0035170572     PISSN: 0003987X     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article

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