Additional de novo missense genetic variants in NALCN associated with CLIFAHDD syndrome-Reference-Cited by-同舟云学术

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

Published:2017-01-30 Issue:6 Volume:91 Page:929-931
ISSN:0009-9163
Container-title:Clinical Genetics
language:en
Short-container-title:Clin Genet

Author:

Vivero M.¹,Cho M.T.²,Begtrup A.²,Wentzensen I.M.²,Walsh L.³,Payne K.³,Zarate Y.A.⁴,Bosanko K.⁴,Schaefer G.B.⁴,DeBrosse S.⁵,Pollack L.⁶,Mason K.⁶,Retterer K.²,DeWard S.²,Juusola J.²,Chung W.K.¹

Affiliation:

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

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1111/cge.12899/fullpdf

Reference3 articles.

1. De novo mutations in NALCN cause a syndrome characterized by congenital contractures of the limbs and face, hypotonia, and developmental delay;Chong;Am J Hum Genet,2015

2. De novo missense mutations in NALCN cause developmental and intellectual impairment with hypotonia;Fukai;J Hum Genet,2016

3. Novel mutations in the nonselective sodium leak channel (NALCN) lead to distal arthrogryposis with increased muscle tone;Karakaya;Neuropediatrics,2016

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1. Case Report: New presentation of CLIFAHDD syndrome with a novel variant in the NALCN gene and a literature review;Frontiers in Pediatrics;2024-05-30

2. New insights into the physiology and pathophysiology of the atypical sodium leak channel NALCN;Physiological Reviews;2024-01-01

3. New presentation of CLIFAHDD syndrome with a novel variant in NALCN gene: A report of a rare case;Clinical Case Reports;2023-07

4. Case Report: A de novo Variant in NALCN Associated With CLIFAHDD Syndrome in a Chinese Infant;Frontiers in Pediatrics;2022-07-13

5. Structure of voltage-modulated sodium-selective NALCN-FAM155A channel complex;Nature Communications;2020-12