Oculoectodermal syndrome with coarctation of the aorta and moyamoya disease: Expanding the phenotype to include vascular anomalies

American Journal of Medical Genetics, Part A

Volumn 155, Issue 3, 2011, Pages 577-581

  Horev, Liran ^a   Lees, Melissa M ^b   Anteby, Irene ^a   Gomori, John M ^a   Gunny, Roxana ^b   Ben Neriah, Ziva ^a  

^a HADASSAH HEBREW UNIVERSITY MEDICAL CENTER   (Israel)

^b Great Ormond Street NHS Trust ^*  (United Kingdom)

Author keywords

Aplasia cutis congenital; Epibulbar dermoid; Moyamoya disease; Oculoectodermal syndrome

Indexed keywords

ENOXAPARIN;

ALOPECIA; ANISOMETROPIA; ANTERIOR CEREBRAL ARTERY; AORTA COARCTATION; ARTERIOGRAPHY; ARTERY BYPASS; ARTICLE; ASTIGMATISM; BLADDER EXSTROPHY; CASE REPORT; CEREBROVASCULAR ACCIDENT; CHILD; COLOBOMA; COMORBIDITY; CRANIOTOMY; DIGITAL SUBTRACTION ANGIOGRAPHY; DOPPLER ECHOGRAPHY; ECHOCARDIOGRAPHY; EXOPHTHALMOS; FEMALE; HUMAN; INFANT; MAGNETIC RESONANCE ANGIOGRAPHY; MALE; MIDDLE CEREBRAL ARTERY; MOYAMOYA DISEASE; NUCLEAR MAGNETIC RESONANCE IMAGING; OCULOECTODERMAL SYNDROME; OPHTHALMOLOGY; PHENOTYPE; PRESCHOOL CHILD; PRIORITY JOURNAL; REVASCULARIZATION; SCHOOL CHILD; SKIN DISEASE; SUBCUTANEOUS NODULE; TERATOMA; VASCULARIZATION;

ABNORMALITIES, MULTIPLE; ADULT; ANGIOGRAPHY; AORTIC COARCTATION; BRAIN; FEMALE; HUMANS; INFANT, NEWBORN; MAGNETIC RESONANCE IMAGING; MALE; MOYAMOYA DISEASE; PHENOTYPE; PREGNANCY; SYNDROME; VASCULAR MALFORMATIONS;

EID: 79952001090     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.33104     Document Type: Article

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