Sweating ability and genotype in individuals with X-linked hypohidrotic ectodermal dysplasia

Journal of Medical Genetics

Volumn 48, Issue 6, 2011, Pages 426-432

  Schneider, Holm ^a   Hammersen, Johanna ^a   Preisler Adams, Sabine ^b   Huttner, Kenneth ^c   Rascher, Wolfgang ^a   Bohring, Axel ^b  

^a UNIVERSITY OF ERLANGEN NUREMBERG   (Germany)

^b UNIVERSITY OF MÜNSTER   (Germany)

^c Edimer Pharmaceuticals Inc   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

ECTODYSPLASIN A; FURIN; GENOMIC DNA; PILOCARPINE;

ADOLESCENT; ADULT; ANHIDROSIS; ARTICLE; CHILD; CLINICAL ARTICLE; CONTROLLED STUDY; CUTANEOUS PARAMETERS; DISEASE MARKER; EDA GENE; FEMALE; GENE; GENE DELETION; GENE MAPPING; GENOTYPE PHENOTYPE CORRELATION; HUMAN; HYPOHIDROTIC ECTODERMAL DYSPLASIA; INFANT; MALE; MISSENSE MUTATION; MULTIPLEX LIGATION DEPENDENT PROBE AMPLIFICATION; NEWBORN; NONSENSE MUTATION; NUCLEOTIDE SEQUENCE; OLIGODONTIA; PALMAR SKIN CONDUCTANCE; PALMAR SWEAT PORE DENSITY; POLYMERASE CHAIN REACTION; PRESCHOOL CHILD; PRIORITY JOURNAL; SCHOOL CHILD; SKIN CONDUCTANCE; SPLICING DEFECT; SWEAT VOLUME; SWEATING; X CHROMOSOME LINKED DISORDER;

ADOLESCENT; ADULT; BASE SEQUENCE; CASE-CONTROL STUDIES; CHILD; CHILD, PRESCHOOL; ECTODERMAL DYSPLASIA 1, ANHIDROTIC; ECTODYSPLASINS; EXONS; FEMALE; GALVANIC SKIN RESPONSE; GENES, X-LINKED; GENETIC ASSOCIATION STUDIES; GENOTYPE; HUMANS; HYPOHIDROSIS; INFANT; MALE; MIDDLE AGED; MOLECULAR SEQUENCE DATA; MUTATION; PHENOTYPE; PILOCARPINE; SWEAT GLANDS; SWEATING;

EID: 79958073307     PISSN: 00222593     EISSN: 14686244     Source Type: Journal    
DOI: 10.1136/jmg.2010.084012     Document Type: Article

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