Whole-exome sequencing identifies ADAM10 mutations as a cause of reticulate acropigmentation of kitamura, a clinical entity distinct from dowling-degos disease

Human Molecular Genetics

Volumn 22, Issue 17, 2013, Pages 3524-3533

  Kono, Michihiro ^a   Sugiura, Kazumitsu ^a   Suganuma, Mutsumi ^a   Hayashi, Masahiro ^b   Takama, Hiromichi ^c   Suzuki, Tamio ^b   Matsunaga, UKayoko ^d   Tomita, Yasushi ^a   Akiyama, Masashi ^a  

^a NAGOYA UNIVERSITY GRADUATE SCHOOL OF MEDICINE   (Japan)

^b YAMAGATA UNIVERSITY   (Japan)

^c Takama Dermatology Clinic   (Japan)

^d FUJITA HEALTH UNIVERSITY SCHOOL OF MEDICINE   (Japan)

Author keywords

[No Author keywords available]

Indexed keywords

ADAM10 ENDOPEPTIDASE;

ADULT; AGED; ARTICLE; AUTOSOMAL DOMINANT INHERITANCE; CLINICAL ARTICLE; CLINICAL FEATURE; CONTROLLED STUDY; DOWLING DEGOS DISEASE; EXOME; FEMALE; GENE MUTATION; HISTOPATHOLOGY; HUMAN; HUMAN CELL; HUMAN TISSUE; IMMUNOHISTOCHEMISTRY; LOSS OF FUNCTION MUTATION; MALE; MISSENSE MUTATION; MUTATIONAL ANALYSIS; PEDIGREE; PENETRANCE; PHENOTYPE; PIGMENT DISORDER; PRIORITY JOURNAL; RETICULATE ACROPIGMENTATION OF KITAMURA; SEQUENCE ANALYSIS; SPLICE SITE MUTATION;

EID: 84881603740     PISSN: 09646906     EISSN: 14602083     Source Type: Journal    
DOI: 10.1093/hmg/ddt207     Document Type: Article

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