FOXL2 and BPES: Mutational hotspots, phenotypic variability, and revision of the genotype-phenotype correlation

American Journal of Human Genetics

Volumn 72, Issue 2, 2003, Pages 478-487

  De Baere, Elfride ^a   Beysen, Diane ^a   Oley, Christine ^l   Lorenz, Birgit ^b   Cocquet, Julie ^c   De Sutter, Paul ^a   Devriendt, Koen ^d   Dixon, Michael ^e   Fellous, Marc ^c   Fryns, Jean Pierre ^d   Garza, Arturo ^f   Jonsrud, Christoffer ^g   Koivisto, Pasi A ^h   Krause, Amanda ⁱ   Leroy, Bart P ^a   Meire, Françoise ^a   Plomp, Astrid ^j   Van Maldergem, Lionel ^k   De Paepe, Anne ^a   Veitia, Reiner ^c   Messiaen, Ludwine ^a   more..

^a GHENT UNIVERSITY HOSPITAL   (Belgium)

^b UNIVERSITY HOSPITAL REGENSBURG   (Germany)

^c Hôpital Cochin ^*  (France)

^d CENTER FOR HUMAN GENETICS   (Belgium)

^e UNIVERSITY OF MANCHESTER   (United Kingdom)

^f Grupo Trans Americano Esterilidad F   (Mexico)

^g UNIVERSITY HOSPITAL OF NORTH NORWAY   (Norway)

^h TAMPERE UNIVERSITY HOSPITAL   (Finland)

ⁱ NATIONAL HEALTH LABORATORY SERVICE   (South Africa)

^j UNIVERSITY OF AMSTERDAM   (Netherlands)

^k Ctr de Genet Humaine   (Belgium)

^l NONE

more..

Author keywords

[No Author keywords available]

Indexed keywords

ARTICLE; AUTOSOMAL DOMINANT INHERITANCE; BLEPHAROPHIMOSIS; CLINICAL ARTICLE; CONGENITAL MALFORMATION; CONTROLLED STUDY; CORRELATION ANALYSIS; FEMALE; FLUORESCENCE IN SITU HYBRIDIZATION; FOXL2 GENE; GENE DELETION; GENE DUPLICATION; GENE MUTATION; GENE SEQUENCE; GENETIC RISK; GENETIC TRANSCRIPTION; GENETIC VARIABILITY; GENOTYPE; HUMAN; MALE; MENTAL DEFICIENCY; MISSENSE MUTATION; MUTATIONAL ANALYSIS; NUCLEOTIDE SEQUENCE; OPEN READING FRAME; PEDIGREE; PHENOTYPE; PREMATURE OVARIAN FAILURE; PRIORITY JOURNAL; PROMOTER REGION; SEQUENCE ANALYSIS;

EID: 0037318857     PISSN: 00029297     EISSN: None     Source Type: Journal    
DOI: 10.1086/346118     Document Type: Article

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