Surgical management of Chiari malformation type 1 associated to MCAP syndrome and study of cerebellar and adjacent tissues for PIK3CA mosaicism-Reference-Cited by-同舟云学术

Surgical management of Chiari malformation type 1 associated to MCAP syndrome and study of cerebellar and adjacent tissues for PIK3CA mosaicism

Published:2023-02 Issue:2 Volume:66 Page:104678
ISSN:1769-7212
Container-title:European Journal of Medical Genetics
language:en
Short-container-title:European Journal of Medical Genetics

Author:

Di Rocco Federico^ORCID,Licci Maria Lucia,Garde Aurore,Mottolese Carmine,Thauvin-Robinet Christel,Chevarin Martin,Guibaud Laurent,Vabres Pierre,Kuentz Paul,Faivre Laurence

Publisher

Elsevier BV

Subject

Genetics (clinical),Genetics,General Medicine

Reference21 articles.

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3. Surgical management of cerebellar tonsillar herniation in three patients with macrocephaly-cutis marmorata telangiectatica congenita. Report of three cases;Conway;J. Neurosurg.,2007

4. Neuroimaging findings in macrocephaly capillary malformation: a longitudinal study of 17 patients;Conway;Am. J. Med. Genet.,2007

5. Lack of mutation-histopathology correlation in a patient with Proteus syndrome;Doucet;Am. J. Med. Genet.,2016

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1. Chiari Syndrome: Advances in Epidemiology and Pathogenesis: A Systematic Review;Journal of Clinical Medicine;2023-10-23

2. A Neonate Diagnosed with Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome with PIK3CA Mutation;Neonatal Medicine;2023-05-31