Novel and recurrent EVC and EVC2 mutations in Ellis-van Creveld syndrome and Weyers acrofacial dyostosis

European Journal of Medical Genetics

Volumn 56, Issue 2, 2013, Pages 80-87

  D'Asdia, Maria Cecilia ^a,b   Torrente, Isabella ^a   Consoli, Federica ^a,b   Ferese, Rosangela ^a,b   Magliozzi, Monia ^a   Bernardini, Laura ^a   Guida, Valentina ^a,b   Digilio, Maria Cristina ^c   Marino, Bruno ^d,e   Dallapiccola, Bruno ^c   De Luca, Alessandro ^a  

^a CASA SOLLIEVO DELLA SOFFERENZA HOSPITAL   (Italy)

^b SAPIENZA UNIVERSITY OF ROME   (Italy)

^c BAMBINO GESÙ CHILDREN S HOSPITAL   (Italy)

^d SAPIENZA UNIVERSITY OF ROME   (Italy)

^e Eleonora Lorillard Spencer Cenci Foundation   (Italy)

Author keywords

AVCD; CA; CHD; Ellis van Creveld syndrome; EVC; EVC2; EvCS; Hh; MLPA; MZ; OFD; QRT PCR; SIFT; SNP; SRP; WAD; Weyers acrofacial dyostosis

Indexed keywords

ADOLESCENT; ADULT; ARTICLE; CHILD; CLINICAL ARTICLE; COPY NUMBER VARIATION; DYSOSTOSIS; ELLIS VAN CREVELD SYNDROME; EVC GENE; EVC2 GENE; EXON; FEMALE; FETUS; GENE; GENE DELETION; GENE DUPLICATION; GENE MUTATION; HUMAN; IN VITRO STUDY; INFANT; INTRON; MALE; MISSENSE MUTATION; NEWBORN; NONSENSE MUTATION; PRESCHOOL CHILD; RNA SPLICING; SCHOOL CHILD; WEYERS ACROFACIAL DYOSTOSIS;

ABNORMALITIES, MULTIPLE; ADOLESCENT; ADULT; CHILD; CHILD, PRESCHOOL; DNA COPY NUMBER VARIATIONS; ELLIS-VAN CREVELD SYNDROME; EXONS; FEMALE; GENOTYPE; HUMANS; INFANT; INFANT, NEWBORN; INTRONS; LIMB DEFORMITIES, CONGENITAL; MALE; MUTATION; PROTEINS; RNA SPLICE SITES; TOOTH ABNORMALITIES; YOUNG ADULT;

EID: 84873188975     PISSN: 17697212     EISSN: 18780849     Source Type: Journal    
DOI: 10.1016/j.ejmg.2012.11.005     Document Type: Article

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