Fowler syndrome and fetal MRI findings: a genetic disorder mimicking hydranencephaly/hydrocephalus-Reference-Cited by-同舟云学术

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Fowler syndrome and fetal MRI findings: a genetic disorder mimicking hydranencephaly/hydrocephalus

Published:2018-03-14 Issue:7 Volume:48 Page:1032-1034
ISSN:0301-0449
Container-title:Pediatric Radiology
language:en
Short-container-title:Pediatr Radiol

Author:

Kline-Fath Beth M.,Merrow Arnold C.,Calvo-Garcia Maria A.,Nagaraj Usha D.,Saal Howard M.

Publisher

Springer Science and Business Media LLC

Subject

Radiology Nuclear Medicine and imaging,Pediatrics, Perinatology, and Child Health

Link

http://link.springer.com/article/10.1007/s00247-018-4106-z/fulltext.html

Reference8 articles.

1. Cecchetto G, Milanese L, Giordano R et al (2013) Looking at the missing brain: hydranencephaly case series and literature review. Pediatr Neurol 48:152–158

2. Pavone P, Pratico AD, Vitaliti G et al (2014) Hydranencephaly: cerebral spinal fluid instead of cerebral mantles. Ital J Pediatr 40:79

3. Fowler M, Dow R, White TA et al (1972) Congenital hydrocephalus-hydrencephaly [sic] in five siblings with autopsy studies: a new disease. Dev Med Child Neurol 14:173–188

4. Meyer E, Ricketts C, Margan NV et al (2010) Mutations in the FLVCR2 are associated with proliferative vasculopathy and hydranencephaly-hydrocephaly syndrome (Fowler syndrome). Am J Hum Genet 86:471–478

5. Thomas S, Encha-Razavi F, Devisme L et al (2010) High-throughput sequencing of the 4.1 MB linage interval reveals FLVCR2 deletions and mutation in lethal cerebral vasculopathy. Hum Mutat 31:1134–1141

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1. The genetic basis of hydrocephalus: genes, pathways, mechanisms, and global impact;Fluids and Barriers of the CNS;2024-03-04

2. The genetic basis of hydrocephalus: genes, pathways, mechanisms, and global impact;2023-12-04

3. Hemihydranencephaly of Premature Infant - Case Report;Experimental and Applied Biomedical Research (EABR);2023-05-01

4. Congenital Brain Malformations: An Integrated Diagnostic Approach;Seminars in Pediatric Neurology;2022-07

5. Expanding the clinical spectrum of Fowler syndrome: Three siblings with survival into adulthood and systematic review of the literature;Clinical Genetics;2020-05-11

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