Identification of 34 novel and 56 known FOXL2 mutations in patients with blepharophimosis syndrome

Human Mutation

Volumn 29, Issue 11, 2008, Pages

  Beysen, Diane ^a   De Jaegere, Sarah ^a   Amor, David ^b   Bouchard, Philippe ^c   Christin Maitre, Sophie ^c   Fellous, Marc ^d   Touraine, Philippe ^e   Grix, Arthur W ^f   Hennekam, Raoul ^g   Meire, Françoise ^a,h   Oyen, Nina ⁱ   Wilson, Louise C ^j   Barel, Dalit ^k   Clayton Smith, Jill ^l   De Ravel, Thomy ^m   Decock, Christian ^a   Delbeke, Patricia ^a   Ensenauer, Regina ⁿ   Ebinger, Friedrich ^o   Gillessen Kaesbach, Gabriele ^p   Hendriks, Yvonne ^q   Kimonis, Virginia ^r   Laframboise, Rachel ^s   Laissue, Paul ^d   Leppig, Kathleen ^t   Leroy, Bart P ^a   Miller, David T ^u   Mowat, David ^v   Neumann, Luitgard ^w   Plomp, Astrid ^x   Van Regemorter, Nicole ^y   Wieczorek, Dagmar ^p   Veitia, Reiner A ^d   De Paepe, Anne ^a   De Baere, Elfride ^a   more..

^a GHENT UNIVERSITY HOSPITAL   (Belgium)

^b ROYAL CHILDREN'S HOSPITAL   (Australia)

^c HÔPITAL SAINT ANTOINE   (France)

^d INSERM   (France)

^e PITIÉ SALPÊTRIÈRE HOSPITAL   (France)

^f KAISER PERMANENTE MEDICAL CENTER   (United States)

^g UNIVERSITY OF AMSTERDAM   (Netherlands)

^h HOP UNIV DES ENFANTS REINE FABIOLA   (Belgium)

ⁱ HAUKELAND UNIVERSITY HOSPITAL   (Norway)

^j GREAT ORMOND STREET HOSPITAL   (United Kingdom)

^k TEL AVIV SOURASKY MEDICAL CENTER   (Israel)

^l ST MARY S HOSPITAL   (United Kingdom)

^m UNIVERSITY OF LEUVEN   (Belgium)

ⁿ Mayo Clinic   (United States)

^o UNIVERSITY HOSPITAL HEIDELBERG   (Germany)

^p UNIVERSITY HOSPITAL ESSEN   (Germany)

^q LEIDEN UNIVERSITY MEDICAL CENTER   (Netherlands)

^r UNIVERSITY OF CALIFORNIA   (United States)

^s UNIVERSITÉ LAVAL   (Canada)

^t CENTER FOR HEALTH STUDIES   (United States)

^u BOSTON CHILDREN S HOSPITAL   (United States)

^v SYDNEY CHILDREN'S HOSPITAL   (Australia)

^w CHARITÉ UNIVERSITÄTSMEDIZIN BERLIN   (Germany)

^x NETHERLANDS INSTITUTE FOR NEUROSCIENCE   (Netherlands)

^y ERASME HOSPITAL   (Belgium)

more..

Author keywords

BPES; FOXL2; Genotype phenotype correlations; Phenotype

Indexed keywords

ALANINE; TRANSCRIPTION FACTOR; TRANSCRIPTION FACTOR FOXL2; UNCLASSIFIED DRUG;

ARTICLE; BLEPHAROPHIMOSIS; CONTROLLED STUDY; FEMALE; FRAMESHIFT MUTATION; GENE DELETION; GENE INSERTION; GENE MUTATION; GENOTYPE PHENOTYPE CORRELATION; HUMAN; MALE; MISSENSE MUTATION; NONSENSE MUTATION; NUCLEOTIDE SEQUENCE; PEDIGREE; PEDIGREE ANALYSIS; PRIORITY JOURNAL; SEQUENCE ALIGNMENT;

ADOLESCENT; ADULT; AMINO ACID SEQUENCE; BLEPHAROPHIMOSIS; CHILD; CHILD, PRESCHOOL; CODON, NONSENSE; DNA MUTATIONAL ANALYSIS; EYELIDS; FEMALE; FORKHEAD TRANSCRIPTION FACTORS; FRAMESHIFT MUTATION; GENOTYPE; HUMANS; INFANT; INFANT, NEWBORN; MALE; MIDDLE AGED; MOLECULAR SEQUENCE DATA; MUTATION, MISSENSE; OVARIAN FAILURE, PREMATURE; PEDIGREE; PHENOTYPE; SEQUENCE ALIGNMENT; YOUNG ADULT;

EID: 45749097177     PISSN: 10597794     EISSN: None     Source Type: Journal    
DOI: 10.1002/humu.20819     Document Type: Article

References (16)

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