The putative forkhead transcription factor FOXL2 is mutated in blepharophimosis/ptosis/epicanthus inversus syndrome

Nature Genetics

Volumn 27, Issue 2, 2001, Pages 159-166

  Crisponi, Laura ^a   Deiana, Manila ^a   Loi, Angela ^a   Chiappe, Francesca ^a   Uda, Manuela ^a   Amati, Patrizia ^b   Bisceglia, Luigi ^c   Zelante, Leopoldo ^c   Nagaraja, Ramaiah ^d   Porcu, Susanna ^a   Serafina Ristaldi, M ^a   Marzella, Rosalia ^e   Rocchi, Mariano ^e   Nicolino, Marc ^f   Lienhardt Roussie, Anne ^g   Nivelon, Annie ^h   Verloes, Alain ⁱ   Schlessinger, David ^d   Gasparini, Paolo ^c   Bonneau, Dominique ^b   Cao, Antonio ^a   Pilia, Giuseppe ^a   more..

^a UNIVERSITY OF CAGLIARI   (Italy)

^b POITIERS UNIVERSITY HOSPITAL   (France)

^c CASA SOLLIEVO DELLA SOFFERENZA HOSPITAL   (Italy)

^d NATIONAL INSTITUTE ON AGING   (United States)

^e UNIVERSITY OF BARI   (Italy)

^f HÔPITAL DEBROUSSE   (France)

^g LIMOGES UNIVERSITY HOSPITAL   (France)

^h DIJON UNIVERSITY HOSPITAL   (France)

ⁱ UNIVERSITY OF LIÈGE   (Belgium)

Author keywords

[No Author keywords available]

Indexed keywords

TRANSCRIPTION FACTOR; TRANSCRIPTION FACTOR FOXL2; UNCLASSIFIED DRUG;

ARTICLE; BLEPHAROPHIMOSIS; CHROMOSOME 3Q; CHROMOSOME MAP; EYELID; EYELID DISEASE; FAMILIAL DISEASE; GENE EXPRESSION; GENE MUTATION; GOAT; HUMAN; MALFORMATION SYNDROME; MESENCHYME; MOLECULAR CLONING; NONHUMAN; OVARY DISEASE; OVARY FOLLICLE; PRIORITY JOURNAL; PTOSIS;

ABNORMALITIES, MULTIPLE; ADULT; AMINO ACID SEQUENCE; ANIMALS; BASE SEQUENCE; BLEPHAROPHIMOSIS; BLEPHAROPTOSIS; CHILD; CHROMOSOME SEGREGATION; CHROMOSOMES, HUMAN, PAIR 3; CODON, NONSENSE; DNA-BINDING PROTEINS; EYELID DISEASES; EYELIDS; FEMALE; FORKHEAD TRANSCRIPTION FACTORS; GENE DUPLICATION; HUMANS; MALE; MICE; MOLECULAR SEQUENCE DATA; MUTATION; NOSE DISEASES; OVARY; PEDIGREE; PROTON-TRANSLOCATING ATPASES; SEQUENCE HOMOLOGY, AMINO ACID; SYNDROME; TRANSCRIPTION FACTORS;

CAPRA HIRCUS;

EID: 0035131812     PISSN: 10614036     EISSN: None     Source Type: Journal    
DOI: 10.1038/84781     Document Type: Article

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