Terminal 6q25.3 deletion and abnormal behaviour

Autor: Lukusa T, Willekens D, Lukusa N, De Cock F, Jp, Fryns

Publikováno v: Europe PubMed Central

A 10-year-old mentally retarded boy with terminal 6q25 deletion, dysmorphism and striking abnormal behaviour is reported. The main abnormal physical features recorded at different ages consisted of hydrocephalus, axial hypotonia, absence of spontaneo

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid_dedup__::c981c9100de6579a2124dd5bd4cf6ed9
https://pubmed.ncbi.nlm.nih.gov/11693783

Delusional and psychotic disorders in juvenile myotonic dystrophy type-1.

Autor: Jacobs D; Centre for Human Genetics, University of Leuven, Leuven, Belgium., Willekens D; Centre for Human Genetics, University of Leuven, Leuven, Belgium., de Die-Smulders C; Department of Clinical Genetics, Academic Hospital Maastricht, Maastricht, The Netherlands., Frijns JP; Centre for Human Genetics, University of Leuven, Leuven, Belgium., Steyaert J; Centre for Human Genetics, University of Leuven, Leuven, Belgium.

Publikováno v: American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics [Am J Med Genet B Neuropsychiatr Genet] 2017 Jun; Vol. 174 (4), pp. 359-366. Date of Electronic Publication: 2017 Apr 27.

A study of the cognitive and psychological profile in 16 children with congenital or juvenile myotonic dystrophy.

Autor: Steyaert, J., Umans, S., Willekens, D., Legius, E., Pijkels, E., Die-Smulders, C., Berghe, H., Fryns, J-P.

Publikováno v: Clinical Genetics; Sep1997, Vol. 52 Issue 3, p135-141, 7p

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