FOXL2 Copy Number Changes in the Molecular Pathogenesis of BPES: Unique Cohort of 17 Deletions

Human Mutation

Volumn 31, Issue 5, 2010, Pages

  D'Haene, B ^a   Nevado, J ^b   Pugeat, M ^c   Pierquin, G ^d   Lowry, R B ^e   Reardon, W ^f   Delicado, A ^b   Garcia Minaur S ^b   Palomares, M ^b   Courtens, W ^g   Stefanova, M ^h   Wallace, S ⁱ   Watkins, W ^j   Shelling, A N ^j   Wieczorek, D ^k   Veitia, R A ^l,m   De Paepe, A ^a   Lapunzina, P ^b   De Baere, E ^a  

^a GHENT UNIVERSITY HOSPITAL   (Belgium)

^b HOSPITAL UNIVERSITARIO LA PAZ IDIPAZ   (Spain)

^c INSERM   (France)

^d UNIVERSITY OF LIÈGE   (Belgium)

^e ALBERTA CHILDREN'S HOSPITAL   (Canada)

^f OUR LADY S CHILDREN S HOSPITAL   (Ireland)

^g CLINIQUES UNIVERSITAIRES SAINT LUC   (Belgium)

^h SAHLGRENSKA UNIVERSITY HOSPITAL   (Sweden)

ⁱ UNIVERSITY OF WASHINGTON   (United States)

^j UNIVERSITY OF AUCKLAND   (New Zealand)

^k UNIVERSITY HOSPITAL ESSEN   (Germany)

^l INSTITUT JACQUES MONOD   (France)

^m UNIVERSITÉ PARIS DESCARTES   (France)

more..

Author keywords

BPES; FOXL2; Gene deletion; Genotype phenotype correlations

Indexed keywords

FORKHEAD TRANSCRIPTION FACTOR; TRANSCRIPTION FACTOR FOXL2; UNCLASSIFIED DRUG;

ADOLESCENT; ADULT; ARTICLE; BLEPHAROPHIMOSIS; BLEPHAROPHIMOSIS SYNDROME; CHILD; CLINICAL ARTICLE; COPY NUMBER VARIATION; DNA MICROARRAY; FACIES; FEMALE; GENE DELETION; GENETIC HETEROGENEITY; GENETIC RECOMBINATION; GENETIC SCREENING; GENETIC VARIABILITY; GENOTYPE PHENOTYPE CORRELATION; HETEROZYGOTE; HUMAN; MALE; MALFORMATION SYNDROME; MICROCEPHALY; MULTIPLEX LIGATION DEPENDENT PROBE AMPLIFICATION; MUTATIONAL ANALYSIS; PATHOGENESIS; PHENOTYPIC VARIATION; PRESCHOOL CHILD; PRIORITY JOURNAL; PSYCHOMOTOR RETARDATION; REAL TIME POLYMERASE CHAIN REACTION; SINGLE NUCLEOTIDE POLYMORPHISM; SKELETON MALFORMATION;

ADOLESCENT; BLEPHAROPHIMOSIS; CHILD, PRESCHOOL; DNA COPY NUMBER VARIATIONS; FEMALE; FORKHEAD TRANSCRIPTION FACTORS; GENE DELETION; GENOTYPE; HUMANS; INFANT; MALE; MIDDLE AGED; MUTATION; PEDIGREE; PHENOTYPE; PROGNOSIS;

EID: 77951859405     PISSN: 10597794     EISSN: 10981004     Source Type: Journal    
DOI: 10.1002/humu.21233     Document Type: Article

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