Prenatal diagnosis of primary anophthalmia with a 3q27 interstitial deletion involving SOX2

Prenatal Diagnosis

Volumn 24, Issue 10, 2004, Pages 828-832

  Guichet, Agnès ^a   Triau, Stéphane ^a   Lépinard, Catherine ^a   Esculapavit, Chantal ^b   Biquard, Florence ^a   Descamps, Philippe ^a   Encha Razavi, Férechté ^b   Bonneau, Dominique ^a  

^a ANGERS UNIVERSITY HOSPITAL   (France)

^b HÔPITAL NECKER ENFANTS MALADES   (France)

Author keywords

Deletion 3q 26 28; FISH; Primary anophthalmia; SOX2

Indexed keywords

ADULT; ANOPHTHALMIA; ARTICLE; BACTERIAL ARTIFICIAL CHROMOSOME; CASE REPORT; CHROMOSOME 3Q; CHROMOSOME ANALYSIS; CHROMOSOME DELETION; EYE DEVELOPMENT; FEMALE; FETUS; FLUORESCENCE IN SITU HYBRIDIZATION; GENE; GENE DELETION; HAPLOTYPE; HUMAN; INTERSTITIUM; PRENATAL DIAGNOSIS; PRIORITY JOURNAL; SOX2 GENE;

ADULT; AMNIOTIC FLUID; ANOPHTHALMOS; CHROMOSOME DELETION; CHROMOSOMES, HUMAN, PAIR 3; CYTOGENETIC ANALYSIS; DNA-BINDING PROTEINS; FEMALE; HMGB PROTEINS; HUMANS; IN SITU HYBRIDIZATION, FLUORESCENCE; KARYOTYPING; NUCLEAR PROTEINS; PREGNANCY; PRENATAL DIAGNOSIS; TRANSCRIPTION FACTORS;

EID: 7944225563     PISSN: 01973851     EISSN: None     Source Type: Journal    
DOI: 10.1002/pd.997     Document Type: Article

References (9)

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