Mutation in KANK2, encoding a sequestering protein for steroid receptor coactivators, causes keratoderma and woolly hair

Journal of Medical Genetics

Volumn 51, Issue 6, 2014, Pages 388-394

  Ramot, Yuval ^a   Molho Pessach, Vered ^a   Meir, Tomer ^a   Alper Pinus, Ruslana ^a   Siam, Ihab ^a   Tams, Spiro ^b   Babay, Sofia ^a   Zlotogorski, Abraham ^a  

^a HADASSAH HEBREW UNIVERSITY MEDICAL CENTER   (Israel)

^b AL QUDS UNIVERSITY   (Palestine)

Author keywords

[No Author keywords available]

Indexed keywords

ANKYRIN; NUCLEAR RECEPTOR COACTIVATOR 2; RYANODINE RECEPTOR 3; STEROID RECEPTOR COACTIVATOR 3; STEROID RECEPTOR COACTIVATOR INTERACTING PROTEIN; UNCLASSIFIED DRUG; VITAMIN D RECEPTOR; CARRIER PROTEIN; NCOA2 PROTEIN, HUMAN; NCOA3 PROTEIN, HUMAN; STEROID RECEPTOR;

ACANTHOSIS; ARTICLE; BASAL CELL; CELL DIFFERENTIATION; CELL NUCLEUS; CELLULAR DISTRIBUTION; CLINICAL ARTICLE; CYTOPLASM; EPIDERMIS CELL; EXOME; FRAMESHIFT MUTATION; GENE DELETION; HAIR DISEASE; HETEROZYGOSITY; HOMOZYGOSITY; HUMAN; HUMAN TISSUE; KERATINOCYTE; KERATODERMA; MISSENSE MUTATION; PALMOPLANTAR KERATODERMA; PHENOTYPE; PRIORITY JOURNAL; TRANSACTIVATION; TRANSCRIPTION INITIATION; WOOLLY HAIR; CASE REPORT; CHEMISTRY; COMPUTER SIMULATION; CYTOLOGY; FEMALE; GENETICS; HAIR DISEASES; INTRACELLULAR SPACE; MALE; MUTATION; NEEDLE BIOPSY; NUCLEOTIDE SEQUENCE; PATHOLOGY; PEDIGREE; SKIN;

ANKYRIN REPEAT; BIOPSY, NEEDLE; CARRIER PROTEINS; COMPUTER SIMULATION; DNA MUTATIONAL ANALYSIS; FEMALE; HAIR DISEASES; HUMANS; INTRACELLULAR SPACE; KERATINOCYTES; KERATODERMA, PALMOPLANTAR; MALE; MUTATION; NUCLEAR RECEPTOR COACTIVATOR 2; NUCLEAR RECEPTOR COACTIVATOR 3; PEDIGREE; RECEPTORS, STEROID; SKIN;

EID: 84901396636     PISSN: 00222593     EISSN: 14686244     Source Type: Journal    
DOI: 10.1136/jmedgenet-2014-102346     Document Type: Article

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