Autosomal recessive pure hair and nail ectodermal dysplasia linked to chromosome 12p11.1-q14.3 without KRTHB5 gene mutation

European Journal of Dermatology

Volumn 20, Issue 4, 2010, Pages 443-446

  Rasool, Mahmood ^a   Nawaz, Sadia ^a   Azhar, Aysha ^a   Wajid, Muhammad ^a   Westermark, Per ^b   Baig, Shahid M ^a   Klar, Joakim ^a   Dahl, Niklas ^b  

^a NATIONAL INSTITUTE FOR BIOTECHNOLOGY AND GENETIC ENGINEERING NIBGE   (Pakistan)

^b UPPSALA UNIVERSITY HOSPITAL   (Sweden)

Author keywords

Autosomal recessive; Chromosome 12; Hair nail ectodermal dysplasia; KRTHB5 gene; Linkage analysis

Indexed keywords

KERATIN TYPE II; KERATIN; KRT85 PROTEIN, HUMAN;

ADULT; ARTICLE; AUTOSOMAL RECESSIVE DISORDER; CHROMOSOME 11Q; CHROMOSOME 12P; CHROMOSOME TRANSLOCATION; CLINICAL ARTICLE; CONSANGUINEOUS MARRIAGE; CONTROLLED STUDY; DNA SEQUENCE; ECTODERMAL DYSPLASIA; FAMILY; FEMALE; GENE; GENE LOCUS; GENE MUTATION; GENETIC ANALYSIS; GENETIC CODE; GENETIC LINKAGE; HAIR; HAIR NAIL ECTODERMAL DYSPLASIA; HUMAN; HYPOTRICHOSIS; KRTHB5 GENE; MALE; NAIL DYSPLASIA; NAIL DYSTROPHY; ONYCHOLYSIS; SEQUENCE ANALYSIS; SIBLING; CHROMOSOME 12; CONSANGUINITY; GENETICS; HAIR DISEASE; MUTATION; NAIL DISEASE; PAKISTAN; PEDIGREE;

ADULT; CHROMOSOMES, HUMAN, PAIR 12; CONSANGUINITY; ECTODERMAL DYSPLASIA; FEMALE; HAIR DISEASES; HUMANS; KERATINS, HAIR-SPECIFIC; KERATINS, TYPE II; LOD SCORE; MALE; MUTATION; NAIL DISEASES; PAKISTAN; PEDIGREE; SEQUENCE ANALYSIS, DNA;

EID: 77954752036     PISSN: 11671122     EISSN: 19524013     Source Type: Journal    
DOI: 10.1684/ejd.2010.0962     Document Type: Article

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