Proliferative vasculopathy and hydranencephaly-hydrocephaly syndrome or Fowler syndrome: Report of a family and insight into the disease's mechanism-Reference-Cited by-同舟云学术

Proliferative vasculopathy and hydranencephaly-hydrocephaly syndrome or Fowler syndrome: Report of a family and insight into the disease's mechanism

Published:2018-03-03 Issue:3 Volume:6 Page:446-451
ISSN:2324-9269
Container-title:Molecular Genetics & Genomic Medicine
language:en
Short-container-title:Mol Genet Genomic Med

Author:

Radio Francesca Clementina¹^ORCID,Di Meglio Lavinia²³,Agolini Emanuele⁴^ORCID,Bellacchio Emanuele¹,Rinelli Martina⁴,Toscano Paolo²³,Boldrini Renata⁵,Novelli Antonio⁴,Di Meglio Aniello²³,Dallapiccola Bruno¹

Affiliation:

1. Genetics and Rare Diseases Research Area; Bambino Gesù Children's Hospital; IRCCS; Rome Italy

2. Federico II University; Naples Italy

3. Ultrasound and Prenal Diagnosis “Aniello Di Meglio”; Naples Italy

4. Laboratory of Medical Genetics; Bambino Gesù Children's Hospital; IRCCS; Rome Italy

5. Pathology Unit; Bambino Gesù Children's Hospital; IRCCS; Rome Italy

Funder

Fondazione Bambino Gesù Onlus

Publisher

Wiley

Subject

Genetics (clinical),Genetics,Molecular Biology

Reference13 articles.

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3. Congenital hydranencephalic-hydrocephalic syndrome and mitochondrial dysfunction;Castro-Gago;Journal of Child Neurology,1999

4. The Fowler syndrome-associated protein FLVCR2 is an importer of heme;Duffy;Molecular and Cellular Biology,2010

5. Congenital hydrocephalus-hydrencephaly in five siblings, with autopsy studies: a new disease;Fowler;Developmental Medicine and Child Neurology,1972

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