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Keywords: Behaviour
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Journal Articles

Deep Phenotyping of Development, Communication and Behaviour in Phelan-McDermid Syndrome

Subject Area:
Topic Article Package: IALP , Endocrinology , Further Areas , Genetics , Women's and Children's Health
Gilles Droogmans, Ann Swillen, Griet Van Buggenhout
Journal: Molecular Syndromology
Mol Syndromol (2020) 10 (6): 294–305.
https://doi.org/10.1159/000503840
Published Online: 05 November 2019
...Gilles Droogmans; Ann Swillen; Griet Van Buggenhout Phelan-McDermid syndrome (PMS; also referred to as 22q13.3 deletion syndrome) is a congenital condition due to a microdeletion in the SHANK3 gene. Cognitive and communicative deficits as well as behaviour in the autism spectrum are often noticed...
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Journal Articles

Neuropsychopathology in 7 Patients with the 22q13 Deletion Syndrome: Presence of Bipolar Disorder and Progressive Loss of Skills

Subject Area:
Endocrinology , Further Areas , Genetics , Women's and Children's Health
A. Denayer, H. Van Esch, T. de Ravel, J.-P. Frijns, G. Van Buggenhout, A. Vogels, K. Devriendt, J. Geutjens, P. Thiry, A. Swillen
Journal: Molecular Syndromology
Mol Syndromol (2012) 3 (1): 14–20.
https://doi.org/10.1159/000339119
Published Online: 16 May 2012
...A. Denayer; H. Van Esch; T. de Ravel; J.-P. Frijns; G. Van Buggenhout; A. Vogels; K. Devriendt; J. Geutjens; P. Thiry; A. Swillen The 22q13 deletion syndrome is characterised by intellectual disability (ID), delayed or absent speech, autistic-like behaviour and minor, nonspecific dysmorphic...
View articletitled, Neuropsychopathology in 7 Patients with the 22q13 Deletion Syndrome: Presence of Bipolar Disorder and Progressive Loss of Skills
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