Neurofibromatosis type 2 in Phelan-McDermid syndrome: Institutional experience and review of the literature-Reference-Cited by-同舟云学术

Neurofibromatosis type 2 in Phelan-McDermid syndrome: Institutional experience and review of the literature

Published:2020-11 Issue:11 Volume:63 Page:104042
ISSN:1769-7212
Container-title:European Journal of Medical Genetics
language:en
Short-container-title:European Journal of Medical Genetics

Author:

Ziats Catherine A.,Jain Lavanya,McLarney Brittany,Vandenboom Emily,DuPont Barbara R.,Rogers Curtis,Sarasua Sara,Nevado Julian,Cordisco Emanuela Lucci,Phelan Katy,Boccuto Luigi

Funder

Greenwood Genetic Center Foundation

Hope

Publisher

Elsevier BV

Subject

Genetics(clinical),Genetics,General Medicine

Reference24 articles.

1. Neurofibromatosis type 2;Ardern-Holmes;J. Child Neurol.,2017

2. Multifocal meningiomas in a patient with a constitutional ring chromosome 22;Arinami;J. Med. Genet.,1986

3. Molecular mechanisms generating and stabilizing terminal 22q13 deletions in 44 subjects with Phelan/McDermid syndrome;Bonaglia;PLoS Genet.,2011

4. Pathogenesis of vestibular schwannoma in ring chromosome 22;Denayer;BMC Med. Genet.,2009

5. Delineation of the genetic and clinical spectrum of Phelan-McDermid syndrome caused by SHANK3 point mutations;De Rubeis;Mol. Autism.,2018

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3. Updated consensus guidelines on the management of Phelan–McDermid syndrome;American Journal of Medical Genetics Part A;2023-07

4. Consensus recommendations on counselling in Phelan-McDermid syndrome, with special attention to recurrence risk and to ring chromosome 22;European Journal of Medical Genetics;2023-07

5. Definition and clinical variability of SHANK3-related Phelan-McDermid syndrome;European Journal of Medical Genetics;2023-07