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Article

The severe end of the spectrum: Hypoplastic left heart in Potocki‐Lupski syndrome

13 Jan 2011

Abstract excerpt

Potocki-Lupski syndrome (PTLS) is a recently described microduplication syndrome associated with duplication 17p11.2, including the RAI1 gene. Features of PTLS include hypotonia, feeding difficulties, failure to thrive, developmental delay and behavioral abnormalities including autistic spectrum disorder, anxiety, and inattention. Cardiovascular anomalies were not recognized as a feature of duplication 17p11.2...

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PMID: 21271655
DOI: 10.1002/ajmg.a.33844

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The severe end of the spectrum: Hypoplastic left heart in Potocki‐Lupski syndromePMID 21271655Read ↗

Potocki-Lupski syndrome: an inherited dup(17)(p11.2p11.2) with hypoplastic left heart.Semantic proximity Read ↗

Clinical and cytogenetic features of a Potocki-Lupski syndrome with the shortest 0.25Mb microduplication in 17p11.2 including RAI1.Semantic proximity Read ↗

Inherited dup(17)(p11.2p11.2): expanding the phenotype of the Potocki-Lupski syndrome.Semantic proximity Read ↗

Duplication 17p11.2 (Potocki-Lupski Syndrome) in a child with developmental delay.Semantic proximity Read ↗

Patient-specific functional genomics and disease modeling suggest a role for LRP2 in hypoplastic left heart syndromeSemantic proximity Read ↗

The prevalence of 16p12.1 microdeletion in patients with left-sided cardiac lesions.Semantic proximity Read ↗

Submicroscopic Chromosomal Copy Number Variations Identified in Children With Hypoplastic Left Heart SyndromeSemantic proximity Read ↗

Noonan syndrome associated with hypoplastic left heart syndrome.Semantic proximity Read ↗

Phenotypic description of a large French series of individuals with Potocki-Lupski syndrome.Semantic proximity Read ↗

6q25.1 (TAB2) microdeletion is a risk factor for hypoplastic left heart: a case report that expands the phenotype.Semantic proximity Read ↗

A unique Smith-Magenis patient with a de novo intragenic deletion on the maternally inherited overexpressed RAI1 allele.Semantic proximity Read ↗

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