Familial Mental Retardation Syndrome ATR-16 Due to an Inherited Cryptic Subtelomeric Translocation, t(3;16)(q29;p13.3)

In the search for genetic causes of mental retardation, we have studied a five-generation family that includes 10 individuals in generations IV and V who are affected with mild-to-moderate mental retardation and mild, nonspecific dysmorphic features. The disease is inherited in a seemingly autosomal...

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主要な著者: Holinski-Feder, Elke, Reyniers, Edwin, Uhrig, Sabine, Golla, Astrid, Wauters, Jan, Kroisel, Peter, Bossuyt, Paul, Rost, Imma, Jedele, Kerry, Zierler, Hannelore, Schwab, Sieglinde, Wildenauer, Dieter, Speicher, Michael R., Willems, Patrick J., Meitinger, Thomas, Kooy, R. Frank
フォーマット: Artigo
言語:Inglês
出版事項: The American Society of Human Genetics 2000
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オンライン･アクセス:https://ncbi.nlm.nih.gov/pmc/articles/PMC1288322/
https://ncbi.nlm.nih.gov/pubmed/10631133
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