A family with branchio-oculo-facial syndrome with primarily ocular involvement associated with mutation of the TFAP2A gene

Ophthalmic Genetics

Volumn 33, Issue 2, 2012, Pages 100-106

  Dumitrescu, Alina V ^a   Milunsky, Jeff M ^b   Longmuir, Susannah Q ^a   Drack, Arlene V ^a  

^a UNIVERSITY OF IOWA HOSPITALS AND CLINICS   (United States)

^b BOSTON UNIVERSITY SCHOOL OF MEDICINE   (United States)

Author keywords

Branchio oculo facial syndrome; Cataract; Chorioretinal coloboma; Microphthalmia

Indexed keywords

TRANSCRIPTION FACTOR; TRANSCRIPTION FACTOR AP 2 ALPHA; UNCLASSIFIED DRUG;

ANOPHTHALMIA; ANOPHTHTHALMIA; ARTICLE; AUTOSOMAL DOMINANT DISORDER; BLEPHAROPHIMOSIS; BRANCHIOOCULOFACIAL SYNDROME; CASE REPORT; COLOBOMA; CONGENITAL CATARACT; CRANIOFACIAL MALFORMATION; ECHOGRAPHY; EYE EXAMINATION; FAMILY HISTORY; FEMALE; FOLLOW UP; GENE MUTATION; GENETIC ASSOCIATION; GENETIC SCREENING; HUMAN; INFANT; KARYOTYPE 46,XX; MICROPHTHALMIA; MISSENSE MUTATION; MOLECULAR GENETICS; NEUROIMAGING; NUCLEAR MAGNETIC RESONANCE IMAGING; OPHTHALMOSCOPY; PHYSICAL EXAMINATION; PRIORITY JOURNAL; RETINA DETACHMENT;

ADULT; BRANCHIO-OTO-RENAL SYNDROME; CATARACT; COLOBOMA; DNA MUTATIONAL ANALYSIS; EXONS; FEMALE; GENOTYPE; HUMANS; INFANT, NEWBORN; IRIS; MAGNETIC RESONANCE IMAGING; MICROPHTHALMOS; MUTATION; PEDIGREE; PHENOTYPE; RETINA; TRANSCRIPTION FACTOR AP-2;

EID: 84863462866     PISSN: 13816810     EISSN: 17445094     Source Type: Journal    
DOI: 10.3109/13816810.2011.634878     Document Type: Article

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