Fowler syndrome - A clinical, radiological, and pathological study of 14 cases

American Journal of Medical Genetics, Part A

Volumn 152, Issue 1, 2010, Pages 153-160

  Williams, Denise ^a   Patel, Chirag ^a   Fallet Bianco, Catherine ^b   Kalyanasundaram, Karthik ^a   Yacoubi, Mohamed ^c   Déchelotte, Pierre ^d   Scott, Rosemary ^e   Bazin, Anne ^b   Bessiéres, Bettina ^b   Marton, Tamas ^a   Cox, Phillip ^a  

^a BIRMINGHAM CHILDREN S HOSPITAL NHS FOUNDATION TRUST   (United Kingdom)

^b CENTRE HOSPITALIER SAINTE ANNE   (France)

^c FARHAT HACHED HOSPITAL   (Tunisia)

^d UNIVERSITY HOSPITAL OF CLERMONT FERRAND   (France)

^e UNIVERSITY COLLEGE LONDON   (United Kingdom)

Author keywords

Autosomal recessive; Fetal akinesia; Fowler syndrome; Hydranencephaly; Hydranencephaly hydrocephaly; Hydrocephalus; Proliferative vasculopathy; Pterygium; Vasculopathy

Indexed keywords

AKINESIA; ARTICLE; AUTOPSY; AUTOSOMAL RECESSIVE DISORDER; BRAIN CORTEX; BRAIN VENTRICLE DILATATION; CALCINOSIS; CENTRAL NERVOUS SYSTEM; CEREBELLUM HYPOPLASIA; CLEFT PALATE; CLINICAL ARTICLE; CONSANGUINITY; CORPUS CALLOSUM AGENESIS; CYSTIC LYMPHANGIOMA; DIFFERENTIAL DIAGNOSIS; FEMALE; FETUS; FETUS ECHOGRAPHY; FETUS KARYOTYPING; FOWLER SYNDROME; GENETIC VARIABILITY; HISTOLOGY; HUMAN; HUMAN TISSUE; HYDRANENCEPHALY; HYDROCEPHALUS; INTRAUTERINE GROWTH RETARDATION; JOINT CONTRACTURE; MALE; MICROGNATHIA; PERICARDIUM CYST; PRIORITY JOURNAL; PTERYGIUM; VASCULAR DISEASE; VASCULAR NECROSIS; WEBBED NECK; AGENESIS; BRAIN DISEASE; CLINICAL FEATURE; FAMILY STUDY; GESTATIONAL AGE; HISTOPATHOLOGY; PES EQUINUS; PHENOTYPE; VENTRICULOMEGALY;

BRAIN; GENES, RECESSIVE; HUMANS; SYNDROME; ULTRASONOGRAPHY, PRENATAL; VASCULAR DISEASES;

EID: 75149125627     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.33094     Document Type: Article

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