MSX2 Gene Duplication in a Patient with Eye Development Defects

Ophthalmic Genetics

Volumn 36, Issue 4, 2015, Pages 353-358

  Plaisancié, Julie ^a   Collet, Corinne ^b   Pelletier, Valerie ^a   Perdomo, Yaumara ^a   Studer, Fouzia ^a   Fradin, Mélanie ^c   Schaefer, Elise ^c   Speeg Schatz, Claude ^a   Bloch Zupan, Agnès ^d   Flori, Elisabeth ^c   Dollfus, Hélène ^a,c,e  

^a HÔPITAL CIVIL   (France)

^b HÔPITAL LARIBOISIÈRE   (France)

^c HÔPITAL DE HAUTEPIERRE   (France)

^d UNIVERSITY HOSPITAL OF STRASBOURG   (France)

^e INSERM U1112   (France)

Author keywords

Boston type craniosynostosis; coloboma; eye development; MSX2

Indexed keywords

TRANSCRIPTION FACTOR MSX2; HOMEODOMAIN PROTEIN;

AMELOGENESIS IMPERFECTA; AMENORRHEA; ARTICLE; BRACHYCEPHALY; CASE REPORT; CHILD; CHORIORETINAL COLOBOMA; CHOROID DISEASE; COLOBOMA; COMPUTER ASSISTED TOMOGRAPHY; COPY NUMBER VARIATION; CRANIECTOMY; CRANIOFACIAL SYNOSTOSIS; DATA ANALYSIS SOFTWARE; EYE DEVELOPMENT; FACE DYSMORPHIA; FEMALE; GENE DOSAGE; GENE DUPLICATION; GENE OVEREXPRESSION; GENETIC ANALYZER; HUMAN; IRIS COLOBOMA; KARYOTYPING; LOW SET EAR; MEDICAL HISTORY; MICROARRAY KIT; MULTIPLEX LIGATION DEPENDENT PROBE AMPLIFICATION; ONSET AGE; OPHTHALMOLOGY; PHYSICAL EXAMINATION; PREMATURITY; PRIORITY JOURNAL; RETINA DISEASE; SYNDACTYLY; DNA MUTATIONAL ANALYSIS; GENETICS; POLYMERASE CHAIN REACTION; PRESCHOOL CHILD;

CHILD, PRESCHOOL; COLOBOMA; CRANIOSYNOSTOSES; DNA COPY NUMBER VARIATIONS; DNA MUTATIONAL ANALYSIS; FEMALE; GENE DUPLICATION; HOMEODOMAIN PROTEINS; HUMANS; POLYMERASE CHAIN REACTION; PREMATURE BIRTH;

EID: 84951908725     PISSN: 13816810     EISSN: 17445094     Source Type: Journal    
DOI: 10.3109/13816810.2014.886270     Document Type: Article

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