Additional de novo missense genetic variants in NALCN associated with CLIFAHDD syndrome

Clin Genet. 2017 Jun;91(6):929-931. doi: 10.1111/cge.12899. Epub 2017 Jan 30.

¹ Department of Pediatrics, Columbia University Medical Center, New York, NY, USA.
² GeneDx, Gaithersburg, MD, USA.
³ Department of Child Neurology, Riley Hospital for Children, Indianapolis, IN, USA.
⁴ Section of Genetics and Metabolism, University of Arkansas for Medical Sciences, Arkansas Children's Hospital, Little Rock, AR, USA.
⁵ Center for Human Genetics, University Hospitals Case Medical Center and Case Western Reserve University, Cleveland, OH, USA.
⁶ Division of Genetics, Arnold Palmer Hospital for Children, Orlando, FL, USA.

No abstract available

Keywords: CLIFAHDD syndrome; NALCN; de novo; neurodevelopmental disorder; whole-exome sequencing.

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