A novel mutation in the EDAR gene causes severe autosomal recessive hypohidrotic ectodermal dysplasia

American Journal of Medical Genetics, Part A

Volumn 164, Issue 8, 2014, Pages 2059-2061

  Henningsen, Emil ^a   Svendsen, Mathias Tiedemann ^a   Lildballe, Dorte Launholt ^b   Jensen, Peter Kjestrup Axel ^b  

^a ODENSE UNIVERSITY HOSPITAL   (Denmark)

^b AARHUS UNIVERSITY HOSPITAL   (Denmark)

Author keywords

Autosomal recessive; Clinical findings; EDA; EDAR; Hypohidrotic ectodermal dysplasia; KPP; NF kB; Novel mutation

Indexed keywords

EDAR RECEPTOR; HYDROCORTISONE; IMMUNOGLOBULIN ENHANCER BINDING PROTEIN; NOSE DROPS; EDAR PROTEIN, HUMAN;

AMINO ACID SEQUENCE; ANHIDROSIS; ARTICLE; CASE REPORT; CHILD; CHRONIC RHINITIS; CLINICAL EXAMINATION; DERMATITIS; DRY SKIN; EDAR GENE; EPILUMINESCENCE MICROSCOPY; FEMALE; FRAMESHIFT MUTATION; FRONTAL BOSSING; GENE DELETION; GENE MUTATION; HETEROZYGOSITY; HOMOZYGOSITY; HUMAN; HYPODONTIA; HYPOHIDROTIC ECTODERMAL DYSPLASIA; HYPOTRICHOSIS; LIP MALFORMATION; LOSS OF FUNCTION MUTATION; MUTATIONAL ANALYSIS; NUCLEOTIDE SEQUENCE; PALLOR; PHENOTYPE; PRESCHOOL CHILD; PRIORITY JOURNAL; PROMINENT EAR; SIGNAL TRANSDUCTION; CONSANGUINITY; ECTODERMAL DYSPLASIA, HYPOHIDROTIC, AUTOSOMAL RECESSIVE; GENETIC ASSOCIATION; GENETICS; MUTATION; SEVERITY OF ILLNESS INDEX;

CHILD, PRESCHOOL; CONSANGUINITY; DNA MUTATIONAL ANALYSIS; ECTODERMAL DYSPLASIA, HYPOHIDROTIC, AUTOSOMAL RECESSIVE; EDAR RECEPTOR; FEMALE; GENETIC ASSOCIATION STUDIES; HUMANS; MUTATION; PHENOTYPE; SEVERITY OF ILLNESS INDEX;

EID: 84904437078     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.36582     Document Type: Article

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