| Angelman syndrome and hypothyroidism - coincidence or unique correlation? | |
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MedLine Citation:
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PMID: 17984955 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
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Angelman Syndrome (AS, MIM 105830), classified among neurogenetic disorders, occurs with estimated frequency of 1:10 000 to 1:40 000. The characteristics features apart from neurodevelopmental impairment and seizures include peculiar face traits, absent speech, outburst of laughter, ataxia, stereotyped jerky (puppet-like) movements. The authors report three children with Angelman syndrome who were also diagnosed with hypothyroidism. |
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Authors:
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Justyna Paprocka; Ewa Jamroz; Maria Kalina; Barbara Kalina-Faska; Ewa Malecka-Tendera; Elzbieta Marszal |
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Publication Detail:
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Type: Case Reports; Journal Article |
Journal Detail:
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Title: Neuro endocrinology letters Volume: 28 ISSN: 0172-780X ISO Abbreviation: Neuro Endocrinol. Lett. Publication Date: 2007 Oct |
Date Detail:
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Created Date: 2007-12-06 Completed Date: 2008-02-11 Revised Date: - |
Medline Journal Info:
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Nlm Unique ID: 8008373 Medline TA: Neuro Endocrinol Lett Country: Sweden |
Other Details:
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Languages: eng Pagination: 545-6 Citation Subset: IM |
Affiliation:
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Department of Child Neurology, Silesian Medical University, Katowice, Poland. jstyna.paprocka@interia.pl. |
Export Citation:
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| MeSH Terms | |
Descriptor/Qualifier:
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Adolescent Angelman Syndrome / complications*, genetics Child, Preschool Chromosomes, Human, Pair 15 / genetics* Humans Hypothyroidism / blood, complications*, drug therapy, genetics Immunoglobulins, Thyroid-Stimulating / blood Sequence Deletion Thyroxine / therapeutic use |
| Chemical | |
Reg. No./Substance:
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0/Immunoglobulins, Thyroid-Stimulating; 7488-70-2/Thyroxine |
From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
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