A Recurrent De Novo Variant in NACC1 Causes a Syndrome Characterized by Infantile Epilepsy, Cataracts, and Profound Developmental Delay (Q41920971)
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scientific article published on 25 January 2017
| Language | Label | Description | Also known as |
|---|---|---|---|
| English | A Recurrent De Novo Variant in NACC1 Causes a Syndrome Characterized by Infantile Epilepsy, Cataracts, and Profound Developmental Delay |
scientific article published on 25 January 2017 |
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A Recurrent De Novo Variant in NACC1 Causes a Syndrome Characterized by Infantile Epilepsy, Cataracts, and Profound Developmental Delay (English)
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Undiagnosed Diseases Network
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James R Lupski
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Yaping Yang
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Stanley F Nelson
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Zeynep Coban Akdemir
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Jill A Rosenfeld
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Fernando Scaglia
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Sujay Kansagra
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Deeksha Bali
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Kelly Schoch
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Linyan Meng
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Szabolcs Szelinger
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David R Bearden
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Asbjorg Stray-Pedersen
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Oyvind L Busk
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Eriskay Liston
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Ronald D Cohn
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Jennifer Tarpinian
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Cara M Skraban
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Matthew A Deardorff
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Jeremy N Friedman
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Nicole Walley
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Peter G Kranz
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Joan Jasien
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Allyn McConkie-Rosell
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Marie McDonald
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Stephanie Burns Wechsler
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Michael Freemark
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Sharon Freedman
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Francisca Millan
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Sherri Bale
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Hane Lee
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Naghmeh Dorrani
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UCLA Clinical Genomics Center
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David B Goldstein
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Rui Xiao
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Julian A Martinez-Agosto
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Vandana Shashi
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25 January 2017
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100
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343-351
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