Definition and clinical variability of SHANK3-related Phelan-McDermid syndrome
Author:
Publisher
Elsevier BV
Subject
Genetics (clinical),Genetics,General Medicine
Reference84 articles.
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1. Simulated complexes formed from a set of postsynaptic proteins suggest a localised effect of a hypomorphic Shank mutation;2023-10-19
2. Consensus recommendations on organization of care for individuals with Phelan-McDermid syndrome;European Journal of Medical Genetics;2023-07
3. 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
4. Parental perspectives on Phelan-McDermid syndrome: Results of a worldwide survey;European Journal of Medical Genetics;2023-07
5. Consensus recommendations on chewing, swallowing and gastrointestinal problems in Phelan-McDermid syndrome;European Journal of Medical Genetics;2023-06
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