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CHROMOSOME Xq26.3 DUPLICATION SYNDROME

Known as: CHROMOSOME Xq26 MICRODUPLICATION SYNDROME, X-LINKED ACROGIGANTISM, XLAG 
National Institutes of Health

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6 relations
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Papers overview

Semantic Scholar uses AI to extract papers important to this topic.
2020
2020
7th International Multithematic Scientific Bio-Medical Congress (IMBMC), Nicosia, Cyprus, 2019
The 7th International Multithematic Bio-Medical Congress 2019, “Bio-Medical Scientific Cyprus (BSC)”, was organized by the… 
2017
2017
X-Linked Lissencephaly With Absent Corpus Callosum and Abnormal Genitalia
X-linked lissencephaly with abnormal genitalia is a rare and devastating syndrome. The authors present an infant with a… 
Review
2017
Review
2017
A unique case of lissencephaly with Crouzon syndrome heterozygous for FGFR2 mutation
Dear Editor, We are pleased to report a unique case of posterior predominant lissencephaly in a child with Crouzon syndrome… 
2011
2011
Corpus callosum agenesis, severe mental retardation, epilepsy, and dyskinetic quadriparesis due to a novel mutation in the homeodomain of ARX
We report on a patient with agenesis of the corpus callosum (ACC), severe mental retardation, infantile spasms and subsequent… 
2007
2007
[X-linked lissencephaly with absent corpus callosum and abnormal genitalia: a report of siblings followed from the prenatal period].
X-linked lissencephaly with absent corpus callosum and abnormal genitalia (XLAG) is caused by a mutation in the ARX gene. We… 
2007
2007
胎児期より経過をみたＸ連鎖性滑脳症―脳梁欠損と外性器異常症（ＸＬＡＧ）の兄弟例―:脳梁欠損と外性器異常症 (XLAG) の兄弟例
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