Article

A Novel NIPBL Variant Causes Cornelia de Lange Syndrome with horseshoe kidney and renal insufficiency: case report and literature review

2024-10-16

Abstract excerpt

<title>Abstract</title> <p><bold>Background: </bold>Renal involvement is rare reported in Cornelia de Lange Syndrome (CdLS). Herein, we present one male boy who is diagnosed as CdLS that have renal involvement with findings related to the novel NIPBL variant. <bold>Case presentation: </bold>One male boy was referred to our department because of short stature. He had synophrys with arched and thick eyebrows, long...

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Literature Corpus work: 8b573c36-c862-58a8-9cff-ee20121354f1
DOI: 10.21203/rs.3.rs-4283604/v1

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