Phelan-McDermid syndrome due to SHANK3 mutation in an intellectually disabled adult male: successful treatment with lithium

For 30 years, Phelan and co-workers described a syndrome characterised by neonatal hypotonia, global developmental delay, strongly impaired speech, sleep disturbances and hyperreactivity to sensory stimuli. This Phelan-McDermid syndrome (PMS), also presenting with symptoms from the autism spectrum a...

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Detalhes bibliográficos
Publicado no:BMJ Case Rep
Main Authors: Egger, Jos I M, Verhoeven, Willem M A, Groenendijk-Reijenga, Renske, Kant, Sarina G
Formato: Artigo
Idioma:Inglês
Publicado em: BMJ Publishing Group 2017
Assuntos:
Rare Disease
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC5652380/
https://ncbi.nlm.nih.gov/pubmed/28963116
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1136/bcr-2017-220778
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