Naegeli-Franceschetti-Jadassohn syndrome and dermatopathia pigmentosa reticularis: Two allelic ectodermal dysplasias caused by dominant mutations in KRT14

American Journal of Human Genetics

Volumn 79, Issue 4, 2006, Pages 724-730

  Lugassy, Jennie ^a   Itin, Peter ^b   Ishida Yamamoto, Akemi ^c   Holland, Kristen ^d   Huson, Susan ^e   Geiger, Dan ^a   Hennies, Hans Christian ^f   Indelman, Margarita ^a   Bercovich, Dani ^g   Uitto, Jouni ^h   Bergman, Reuven ^a   McGrath, John A ⁱ   Richard, Gabriele ^h,j   Sprecher, Eli ^a,k  

^a TECHNION ISRAEL INSTITUTE OF TECHNOLOGY   (Israel)

^b UNIVERSITY OF BASEL   (Switzerland)

^c ASAHIKAWA MEDICAL COLLEGE   (Japan)

^d MEDICAL COLLEGE OF WISCONSIN   (United States)

^e Academic Unit of Medical Genetics   (Germany)

^f UNIVERSITY OF COLOGNE   (Germany)

^g MIGAL GALILEE TECHNOLOGY CENTER   (Israel)

^h THOMAS JEFFERSON UNIVERSITY   (United States)

ⁱ KING'S COLLEGE LONDON   (United Kingdom)

^j GENEDX   (United States)

^k RAMBAM MEDICAL CENTER   (Israel)

more..

Author keywords

[No Author keywords available]

Indexed keywords

CYTOKERATIN 14; KERATIN;

ALLELE; ALPHA HELIX; AMINO TERMINAL SEQUENCE; APOPTOSIS; ARTICLE; AUTOSOMAL DOMINANT INHERITANCE; BASAL CELL; CELL ULTRASTRUCTURE; CHROMOSOME 17Q; CHROMOSOME MARKER; CLINICAL ARTICLE; CONTROLLED STUDY; DERMATOPATHIA PIGMENTOSA RETICULARIS; ECTODERMAL DYSPLASIA; EPIDERMOLYSIS BULLOSA SIMPLEX; FEMALE; FINGER DERMATOGLYPHICS; FRAMESHIFT MUTATION; GENE; GENE CLUSTER; GENE LOCUS; GENE MUTATION; GENE SEGREGATION; GENETIC ANALYSIS; GENETIC LINKAGE; GENETIC RECOMBINATION; GENOTYPE PHENOTYPE CORRELATION; HAIR DISEASE; HUMAN; HUMAN TISSUE; HYPERPIGMENTATION; KERATOSIS PALMOPLANTARIS; KRT14 GENE; MALE; NAEGELI FRANCESCHETTI JADASSOHN SYNDROME; NONSENSE MUTATION; ONTOGENY; PATHOGENESIS; PRIORITY JOURNAL; PROTEIN DOMAIN; PROTEIN EXPRESSION; PROTEIN FUNCTION; PROTEIN LOCALIZATION; RNA TRANSLATION; SKIN BIOPSY; SKIN MALFORMATION; SWEAT GLAND; SWEATING; TOOTH MALFORMATION; TRANSLATION REGULATION;

SOLEIDAE;

EID: 33749035448     PISSN: 00029297     EISSN: None     Source Type: Journal    
DOI: 10.1086/507792     Document Type: Article

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