A unique phenotype in a patient with a rare triplication of the 22q11.2 region and new clinical insights of the 22q11.2 microduplication syndrome: a report of two cases.
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Copy number elevation of 22q11.2 genes arrests the developmental maturation of working memory capacity and adult hippocampal neurogenesis.22q11.2 microduplication syndrome with associated esophageal atresia/tracheo-esophageal fistula and vascular ringDetection of an Underlying 22q11.2 Duplication in a Female Neonate With Trisomy 18.Atypical autism in a boy with double duplication of 22q11.2: implications of increasing dosage.Importance and usage of chromosomal microarray analysis in diagnosing intellectual disability, global developmental delay, and autism; and discovering new loci for these disorders
P2860
A unique phenotype in a patient with a rare triplication of the 22q11.2 region and new clinical insights of the 22q11.2 microduplication syndrome: a report of two cases.
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2015 nî lūn-bûn
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2015年の論文
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2015年論文
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2015年論文
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2015年論文
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2015年論文
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2015年論文
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2015年论文
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2015年论文
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2015年论文
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name
A unique phenotype in a patien ...... ndrome: a report of two cases.
@ast
A unique phenotype in a patien ...... ndrome: a report of two cases.
@en
type
label
A unique phenotype in a patien ...... ndrome: a report of two cases.
@ast
A unique phenotype in a patien ...... ndrome: a report of two cases.
@en
prefLabel
A unique phenotype in a patien ...... ndrome: a report of two cases.
@ast
A unique phenotype in a patien ...... ndrome: a report of two cases.
@en
P2093
P2860
P1433
P1476
A unique phenotype in a patien ...... yndrome: a report of two cases
@en
P2093
Luís M Pires
Paula Maciel
Renato Pires
Sara O Vaz
P2860
P2888
P356
10.1186/S12887-015-0417-5
P577
2015-08-22T00:00:00Z
P5875
P6179
1033936482