Autosomal-recessive SASH1 variants associated with a new genodermatosis with pigmentation defects, palmoplantar keratoderma and skin carcinoma

European Journal of Human Genetics

Volumn 23, Issue 7, 2015, Pages 957-962

  Courcet, Jean Benoît ^a   Elalaoui, Siham Chafai ^b,c   Duplomb, Laurence ^a   Tajir, Mariam ^b,c   Rivière, Jean Baptiste ^a,d   Thevenon, Julien ^a   Gigot, Nadège ^a,d   Marle, Nathalie ^a,d   Aral, Bernard ^a,d   Duffourd, Yannis ^a   Sarasin, Alain ^e   Naim, Valeria ^e   Courcet Degrolard, Emilie ^d   Aubriot Lorton, Marie Hélène ^d   Martin, Laurent ^d   Abrid, Jamal Eddin ^f   Thauvin, Christel ^a,d   Sefiani, Abdelaziz ^b,c   Vabres, Pierre ^a,g   Faivre, Laurence ^a,d  

^a UNIVERSITÉ DE BOURGOGNE   (France)

^b Institut National d'Hygiène   (Morocco)

^c MOHAMMED V UNIVERSITY   (Morocco)

^d DIJON UNIVERSITY HOSPITAL   (France)

^e Gustave Roussy Comprehensive Cancer Institute   (France)

^f Laboratoire d'Anatomie et Cytologie Pathologiques   (Morocco)

^g HÔPITAL DU BOCAGE   (France)

Author keywords

[No Author keywords available]

Indexed keywords

COMPLEMENTARY DNA; SASH1 PROTEIN, HUMAN; TUMOR SUPPRESSOR PROTEIN;

ADULT; ARTICLE; AUTOSOMAL DOMINANT INHERITANCE; AUTOSOMAL RECESSIVE INHERITANCE; BONE DEMINERALIZATION; CARCINOMA; CASE REPORT; CELL MIGRATION; CONTROLLED STUDY; COPY NUMBER VARIATION; DIFFUSE PALMOPLANTAR KERATODERMA; FEMALE; FINGER AMPUTATION; GENE IDENTIFICATION; GENETIC ASSOCIATION; GENETIC VARIABILITY; GENODERMATOSIS; HAIR LOSS; HETEROZYGOTE; HOMOZYGOSITY; HUMAN; LIMIT OF QUANTITATION; MALE; OVERLAPPING GENE; PALMOPLANTAR KERATODERMA; PHENOTYPE; PIGMENT DISORDER; PRIORITY JOURNAL; REAL TIME POLYMERASE CHAIN REACTION; ROTHMUND THOMSON SYNDROME; SASH 1 GENE; SEGREGATION ANALYSIS; SINGLE NUCLEOTIDE POLYMORPHISM; SKIN APPENDAGE; SKIN CARCINOMA; TUMOR SUPPRESSOR GENE; WESTERN BLOTTING; WOUND HEALING; CONSANGUINITY; DNA MUTATIONAL ANALYSIS; DNA SEQUENCE; EXOME; FAMILY HEALTH; FIBROBLAST; GENETIC PREDISPOSITION; GENETICS; HOMOZYGOTE; METABOLISM; MISSENSE MUTATION; PATHOLOGY; PEDIGREE; PROCEDURES; RECESSIVE GENE; SIBLING; SKIN; SKIN TUMOR;

ADULT; CONSANGUINITY; DNA MUTATIONAL ANALYSIS; EXOME; FAMILY HEALTH; FEMALE; FIBROBLASTS; GENES, RECESSIVE; GENETIC PREDISPOSITION TO DISEASE; HOMOZYGOTE; HUMANS; KERATODERMA, PALMOPLANTAR; MALE; MUTATION, MISSENSE; PEDIGREE; PIGMENTATION DISORDERS; SEQUENCE ANALYSIS, DNA; SIBLINGS; SKIN; SKIN NEOPLASMS; TUMOR SUPPRESSOR PROTEINS;

EID: 84930871868     PISSN: 10184813     EISSN: 14765438     Source Type: Journal    
DOI: 10.1038/ejhg.2014.213     Document Type: Article

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