Novel homozygous mutation in DSP causing skin fragility-woolly hair syndrome: Report of a large family and review of the desmoplakin-related phenotypes

Clinical Genetics

Volumn 80, Issue 1, 2011, Pages 50-58

  Al Owain, M ^a,b   Wakil, S ^a   Shareef, F ^c   Al Fatani, A ^c   Hamadah, E ^d   Haider, M ^d   Al Hindi, H ^a   Awaji, A ^e   Khalifa, O ^a   Baz, B ^a   Ramadhan, R ^a   Meyer, B ^a  

^a KING FAISAL SPECIALIST HOSPITAL AND RESEARCH CENTER   (Saudi Arabia)

^b ALFAISAL UNIVERSITY   (Saudi Arabia)

^c MINISTRY OF HEALTH   (Saudi Arabia)

^d Department of Medicine ^*  (Saudi Arabia)

^e KING FAHAD GENERAL HOSPITAL   (Saudi Arabia)

Author keywords

Desmoplakin; DSP; Linkage analysis; Palmoplantar keratoderma; Skin fragility; Woolly hair syndrome

Indexed keywords

DESMOPLAKIN; UREA;

ACANTHOLYSIS; ADOLESCENT; ALOPECIA; ARTICLE; AUTOSOMAL RECESSIVE DISORDER; BLISTER; CHROMOSOME 6; CHROMOSOME 6P; CLINICAL ARTICLE; FEMALE; GENE MAPPING; GENE MUTATION; GENE SEQUENCE; GENETIC LINKAGE; GENOTYPE; HAIR DISEASE; HETEROZYGOTE; HOMOZYGOSITY; HUMAN; IMMUNOFLUORESCENCE; NAIL DYSTROPHY; PALMOPLANTAR KERATODERMA; PHENOTYPE; PRIORITY JOURNAL; PUNCH BIOPSY; SKIN BIOPSY; SKIN DISEASE; SKIN FRAGILITY WOOLLY HAIR SYNDROME;

ADOLESCENT; CHILD; CHILD, PRESCHOOL; CHROMOSOMES, HUMAN, PAIR 6; DESMOPLAKINS; GENETIC LINKAGE; HAIR DISEASES; HOMOZYGOTE; HUMANS; KERATODERMA, PALMOPLANTAR; MALE; MUTATION; PHENOTYPE; SKIN ABNORMALITIES;

EID: 79958142900     PISSN: 00099163     EISSN: 13990004     Source Type: Journal    
DOI: 10.1111/j.1399-0004.2010.01518.x     Document Type: Article

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