Mutations in FLVCR2 associated with Fowler syndrome and survival beyond infancy-Reference-Cited by-同舟云学术

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Mutations in FLVCR2 associated with Fowler syndrome and survival beyond infancy

Published:2015-03-04 Issue:1 Volume:89 Page:99-103
ISSN:0009-9163
Container-title:Clinical Genetics
language:en
Short-container-title:Clin Genet

Author:

Kvarnung M.¹²,Taylan F.¹³,Nilsson D.¹²³,Albåge M.⁴,Nordenskjöld M.¹²,Anderlid B.M.¹²,Nordgren A.¹²,Syk Lundberg E.¹²

Affiliation:

1. Department of Molecular Medicine and Surgery, Center for Molecular Medicine; Karolinska Institutet; Stockholm Sweden

2. Department of Clinical Genetics; Karolinska University Hospital; Stockholm Sweden

3. Science for Life Laboratory; Karolinska Institutet Science Park; Stockholm Sweden

4. Department of Paediatrics, Astrid Lindgren Childrens Hospital; Karolinska University Hospital; Stockholm Sweden

Funder

Stockholm County Council

Swedish Medical Research Council

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1111/cge.12565/fullpdf

Reference16 articles.

1. Congenital hydrocephalus-hydrencephaly in five siblings, with autopsy studies: a new disease;Fowler;Dev Med Child Neurol,1972

2. Refining the clinicopathological pattern of cerebral proliferative glomeruloid vasculopathy (Fowler syndrome): report of 16 fetal cases;Bessieres-Grattagliano;Eur J Med Genet,2009

3. Fowler syndrome-a clinical, radiological, and pathological study of 14 cases;Williams;Am J Med Genet A,2010

4. Proliferative vasculopathy and an hydranencephalic-hydrocephalic syndrome: a neuropathological study of two siblings;Harper;Dev Med Child Neurol,1983

5. Fetal neuropathology of proliferative vasculopathy and hydranencephaly-hydrocephaly with multiple limb pterygia;Norman;Pediatr Neurosci,1988

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