PORCN gene mutations and the protean nature of focal dermal hypoplasia

British Journal of Dermatology

Volumn 160, Issue 5, 2009, Pages 1103-1109

  Clements, S E ^a   Mellerio, J E ^a   Holden, S T ^b   McCauley, J ^b   McGrath, J A ^a  

^a KING'S COLLEGE LONDON   (United Kingdom)

^b GUY'S AND ST THOMAS' NHS FOUNDATION TRUST   (United Kingdom)

Author keywords

Focal dermal hypoplasia; Goltz syndrome; PORCN gene; Wnt signalling; X linked dominant

Indexed keywords

WNT PROTEIN;

ADULT; ARTICLE; CASE REPORT; CAUCASIAN; CLINICAL FEATURE; DNA SEQUENCE; ECTODERM; EMBRYO DEVELOPMENT; FEMALE; GENE; GENE DELETION; GENE IDENTIFICATION; GENE MUTATION; GENOTYPE PHENOTYPE CORRELATION; GOLTZ SYNDROME; HISTOPATHOLOGY; HUMAN; HUMAN CELL; HUMAN TISSUE; LIMB MALFORMATION; MESODERM; MOSAICISM; NUCLEAR MAGNETIC RESONANCE IMAGING; OSTEOCLASTOMA; POINT MUTATION; PORCN GENE; PRIORITY JOURNAL; X CHROMOSOME INACTIVATION;

ADULT; DNA MUTATIONAL ANALYSIS; FEMALE; FOCAL DERMAL HYPOPLASIA; GENOTYPE; HUMANS; MEMBRANE PROTEINS; PEDIGREE; PHENOTYPE; POINT MUTATION; X CHROMOSOME INACTIVATION; YOUNG ADULT;

EID: 64849095972     PISSN: 00070963     EISSN: 13652133     Source Type: Journal    
DOI: 10.1111/j.1365-2133.2009.09048.x     Document Type: Article

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