Bilateral semilunar valve dysplasia in a patient with inverted duplication 2p25-22

L. K. Kochilas; D. N. Abuelo; U. Tantravahi

doi:10.1007/s00246-007-9013-2

Bilateral semilunar valve dysplasia in a patient with inverted duplication 2p25-22

L. K. Kochilas, D. N. Abuelo, U. Tantravahi

Research output: Contribution to journal › Article › peer-review

4 Scopus citations

Abstract

Here we report a patient with partial trisomy 2p and congenital dysplasia of the semilunar valves. To our knowledge, this is the first case of 2p duplication with developmental defects of both semilunar valves and suggests that genes on this region contribute to the formation of the semilunar valves.

Original language	English (US)
Pages (from-to)	172-175
Number of pages	4
Journal	Pediatric Cardiology
Volume	29
Issue number	1
DOIs	https://doi.org/10.1007/s00246-007-9013-2
State	Published - Jan 2008
Externally published	Yes

Keywords

Bilateral semilunar valve dysplasia
Inverted duplication
Trisomy 2p

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title = "Bilateral semilunar valve dysplasia in a patient with inverted duplication 2p25-22",

abstract = "Here we report a patient with partial trisomy 2p and congenital dysplasia of the semilunar valves. To our knowledge, this is the first case of 2p duplication with developmental defects of both semilunar valves and suggests that genes on this region contribute to the formation of the semilunar valves.",

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AB - Here we report a patient with partial trisomy 2p and congenital dysplasia of the semilunar valves. To our knowledge, this is the first case of 2p duplication with developmental defects of both semilunar valves and suggests that genes on this region contribute to the formation of the semilunar valves.

KW - Bilateral semilunar valve dysplasia

KW - Inverted duplication

KW - Trisomy 2p

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Bilateral semilunar valve dysplasia in a patient with inverted duplication 2p25-22

Abstract

Keywords

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