Trichorhinophalangeal syndrome with low expression of TRPS1 on epidermal and hair follicle epithelial cells

Journal of Dermatology

Volumn 40, Issue 5, 2013, Pages 396-398

  Ito, Taisuke ^a   Shimomura, Yutaka ^b   Farooq, Muhammad ^b   Suzuki, Noriko ^c   Sakabe, Jun Ichi ^a   Tokura, Yoshiki ^a  

^a HAMAMATSU UNIVERSITY SCHOOL OF MEDICINE   (Japan)

^b NIIGATA UNIVERSITY GRADUATE SCHOOL OF MEDICAL AND DENTAL SCIENCES   (Japan)

^c Department of Pathology   (Japan)

Author keywords

congenital alopecia; pear shaped nose; STAT3; trichorhinophalangeal syndrome; TRPS1

Indexed keywords

PEPTIDES AND PROTEINS; STAT3 PROTEIN; TRICHORHINOPHALANGEAL 1; UNCLASSIFIED DRUG;

ALOPECIA; ARTICLE; AUTOSOMAL DOMINANT DISORDER; BONE AGE; BRACHYDACTYLY; CASE REPORT; CHILD; CLINICAL FEATURE; EPIDERMIS; EPITHELIUM CELL; EXON; FEMALE; HAIR FOLLICLE; HAIR GROWTH; HAIR LOSS; HETEROZYGOSITY; HUMAN; IMMUNOHISTOCHEMISTRY; IMMUNOREACTIVITY; INFORMED CONSENT; JAPANESE; NONSENSE MUTATION; PRESCHOOL CHILD; PROTEIN EXPRESSION; PROTEIN PHOSPHORYLATION; SCALP HAIR; SCANTY HAIR; STOP CODON; TRICHORHINOPHALANGEAL SYNDROME;

CHILD, PRESCHOOL; CODON, NONSENSE; DNA-BINDING PROTEINS; EPITHELIAL CELLS; FEMALE; FINGERS; HAIR DISEASES; HAIR FOLLICLE; HUMANS; LANGER-GIEDION SYNDROME; NOSE; TRANSCRIPTION FACTORS;

EID: 84877771729     PISSN: 03852407     EISSN: 13468138     Source Type: Journal    
DOI: 10.1111/1346-8138.12111     Document Type: Article

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