Consensus recommendations on counselling in Phelan-McDermid syndrome, with special attention to recurrence risk and to ring chromosome 22-Reference-Cited by-同舟云学术

Consensus recommendations on counselling in Phelan-McDermid syndrome, with special attention to recurrence risk and to ring chromosome 22

Published:2023-07 Issue:7 Volume:66 Page:104773
ISSN:1769-7212
Container-title:European Journal of Medical Genetics
language:en
Short-container-title:European Journal of Medical Genetics

Author:

Koza Sylvia A.,Tabet Anne C.,Bonaglia Maria C.,Andres Stephanie,Anderlid Britt-Marie.,Aten Emmelien,Stiefsohn Dominique,Evans D. Gareth,van Ravenswaaij-Arts Conny M.A.,Kant Sarina G.

Publisher

Elsevier BV

Subject

Genetics (clinical),Genetics,General Medicine

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5. Description of a new oncogenic mechanism for atypical teratoid rhabdoid tumors in patients with ring chromosome 22;Byers;Am. J. Med. Genet.,2017

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1. Atypical teratoid/rhabdoid tumour‐TYR subtype arising in the setting of germline ring chromosome 22: An uncommon form of tumour predisposition;Neuropathology and Applied Neurobiology;2024-03-15

2. Genetics of kidney disorders in Phelan-McDermid syndrome: evidence from 357 registry participants;Pediatric Nephrology;2023-09-21

3. Parental perspectives on Phelan-McDermid syndrome: Results of a worldwide survey;European Journal of Medical Genetics;2023-07

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

5. Editorial: Towards a European consensus guideline for Phelan-McDermid syndrome;European Journal of Medical Genetics;2023-05