Unmasking of a recessive SCARF2 mutation by a 22q11.12 de novo deletion in a patient with Van den Ende-Gupta syndrome

Molecular Syndromology

Volumn 1, Issue 5, 2011, Pages 239-245

  Bedeschi, M F ^a   Colombo, L ^b   Mari, F ^c   Hofmann, K ^d   Rauch, A ^d,e   Gentilin, B ^a   Renieri, A ^c   Clerici, D ^b  

^a FONDAZIONE IRCCS CA GRANDA OSPEDALE MAGGIORE POLICLINICO   (Italy)

^b UNIVERSITY OF MILAN   (Italy)

^c UNIVERSITY OF SIENA   (Italy)

^d UNIVERSITY OF ERLANGEN NUREMBERG   (Germany)

^e UNIVERSITY OF ZURICH   (Switzerland)

Author keywords

Arachnocamptodactyly; Blepharophimosis; Congenital contractures; SCARF2; Van den Ende Gupta syndrome

Indexed keywords

ARACHNODACTYLY; ARTICLE; BLEPHAROPHIMOSIS; CAMPTODACTYLY; CASE REPORT; CHILD; CHROMOSOME 22Q; COMPARATIVE GENOMIC HYBRIDIZATION; CONTROLLED STUDY; COPY NUMBER VARIATION; CORNEA OPACITY; DEVELOPMENTAL DISORDER; DNA MICROARRAY; DNA SEQUENCE; FEMALE; GENE; GENE DELETION; GENE MUTATION; HUMAN; HYPERTELORISM; HYPOCALCEMIA; HYPOPLASIA; IMAGE ANALYSIS; INFANT; LONG PHILTRUM; MICROARRAY ANALYSIS; MICROSTOMIA; PHYSIOTHERAPY; PRESCHOOL CHILD; PRIORITY JOURNAL; PROMINENT EAR; SCARF2 GENE; ULTRASOUND; VAN DEN ENDE GUPTA SYNDROME;

EID: 79957456416     PISSN: 16618769     EISSN: 16618777     Source Type: Journal    
DOI: 10.1159/000328135     Document Type: Article

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