Periodic breathing in patients with NALCN mutations
Author:
Publisher
Springer Science and Business Media LLC
Subject
Genetics (clinical),Genetics
Link
http://www.nature.com/articles/s10038-018-0484-1.pdf
Reference16 articles.
1. Koroglu C, Seven M, Tolun A. Recessive truncating NALCN mutation in infantile neuroaxonal dystrophy with facial dysmorphism. J Med Genet. 2013;50:515–20.
2. Al-Sayed MD, Al-Zaidan H, Albakheet A, Hakami H, Kenana R, Al-Yafee Y, et al. Mutations in NALCN cause an autosomal-recessive syndrome with severe hypotonia, speech impairment, and cognitive delay. Am J Hum Genet. 2013;93:721–6.
3. Gal M, Magen D, Zahran Y, Ravid S, Eran A, Khayat M, et al. A novel homozygous splice site mutation in NALCN identified in siblings with cachexia, strabismus, severe intellectual disability, epilepsy and abnormal respiratory rhythm. Eur J Med Genet. 2016;59:204–9.
4. Takenouchi T, Inaba M, Uehara T, Takahashi T, Kosaki K, Mizuno S. Biallelic mutations in NALCN: expanding the genotypic and phenotypic spectra of IHPRF1. Am J Med Genet A. 2018;176:431–7.
5. Seven M, Ozkilic A, Yuksel A. Dysmorphic face in two siblings with infantile neuroaxonal dystrophy. Genet Couns. 2002;13:465–73.
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