Whole-exome sequencing identifies a novel missense mutation in EDAR causing autosomal recessive hypohidrotic ectodermal dysplasia with bilateral amastia and palmoplantar hyperkeratosis

British Journal of Dermatology

Volumn 168, Issue 6, 2013, Pages 1353-1356

  Haghighi, A ^a   Nikuei, P ^b   Haghighi Kakhki, H ^c   Saleh Gohari, N ^d   Baghestani, S ^e   Krawitz, P M ^f   Hecht, J ^g,h   Mundlos, S ^f,g,h  

^a UNIVERSITY OF OXFORD   (United Kingdom)

^b Hormozgan Fertility and Infertility Research Center   (Iran)

^c HORMOZGAN UNIVERSITY OF MEDICAL SCIENCES   (Iran)

^d ISLAMIC AZAD UNIVERSITY   (Iran)

^e KERMAN UNIVERSITY OF MEDICAL SCIENCES   (Iran)

^f Institut für Medizinische Genetik und Humangenetik   (Germany)

^g CHARITÉ UNIVERSITÄTSMEDIZIN BERLIN   (Germany)

^h MAX PLANCK INSTITUTE FOR MOLECULAR GENETICS   (Germany)

Author keywords

[No Author keywords available]

Indexed keywords

EDAR RECEPTOR;

ADOLESCENT; CASE REPORT; CHILD; DNA POLYMORPHISM; DRY SKIN; EXOME; FEMALE; FEVER; HUMAN; HYPODONTIA; HYPOHIDROTIC ECTODERMAL DYSPLASIA; LETTER; MALE; MISSENSE MUTATION; PALMOPLANTAR KERATODERMA; PHYSICAL EXAMINATION; PRIORITY JOURNAL; SCHOOL CHILD;

ADOLESCENT; AMINO ACID SEQUENCE; BASE SEQUENCE; BREAST DISEASES; CONSANGUINITY; ECTODERMAL DYSPLASIA, HYPOHIDROTIC, AUTOSOMAL RECESSIVE; EDAR RECEPTOR; EXOME; FEMALE; HUMANS; KERATODERMA, PALMOPLANTAR; MALE; MOLECULAR SEQUENCE DATA; MUTATION, MISSENSE; PEDIGREE; SEQUENCE ANALYSIS, DNA;

EID: 84878638695     PISSN: 00070963     EISSN: 13652133     Source Type: Journal    
DOI: 10.1111/bjd.12151     Document Type: Letter

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