Search Page
Save citations to file
Email citations
Send citations to clipboard
Add to Collections
Add to My Bibliography
Create a file for external citation management software
Your saved search
Your RSS Feed
Filters
Results by year
Table representation of search results timeline featuring number of search results per year.
Year | Number of Results |
---|---|
2018 | 1 |
2022 | 1 |
2023 | 1 |
2024 | 0 |
Search Results
3 results
Results by year
Filters applied: . Clear all
Quoted phrase not found in phrase index: "Hypotonia, infantile, with psychomotor retardation and characteristic facies 2"
Page 1
Central Apneas Due to the CLIFAHDD Syndrome Successfully Treated with Pyridostigmine.
Int J Environ Res Public Health. 2022 Jan 11;19(2):775. doi: 10.3390/ijerph19020775.
Int J Environ Res Public Health. 2022.
PMID: 35055596
Free PMC article.
NALCN mutations lead to complex neurodevelopmental syndromes, including infantile hypotonia with psychomotor retardation and characteristic facies (IHPRF) and congenital contractures of limbs and face, hypotonia, and develop …
NALCN mutations lead to complex neurodevelopmental syndromes, including infantile hypotonia with psychomotor retarda …
Novel nonsense mutation in UNC80 in a Turkish patient further validates the sociable skill and severe gastrointestinal problems as part of disease spectrum.
Kelesoglu FM, Kaya M, Sayili ET.
Kelesoglu FM, et al.
Am J Med Genet A. 2023 Jul;191(7):1959-1962. doi: 10.1002/ajmg.a.63213. Epub 2023 Apr 17.
Am J Med Genet A. 2023.
PMID: 37067163
The complex has four domains including two intracellular domains (UNC79 and UNC80), one transmembrane domain (NALCN) and one extracellular domain (FAM155A). Mutations in UNC80 were previously linked to infantile hypotonia with psychomotor retardation a …
The complex has four domains including two intracellular domains (UNC79 and UNC80), one transmembrane domain (NALCN) and one extracellular d …
Item in Clipboard
Genetic variants in components of the NALCN-UNC80-UNC79 ion channel complex cause a broad clinical phenotype (NALCN channelopathies).
Bramswig NC, Bertoli-Avella AM, Albrecht B, Al Aqeel AI, Alhashem A, Al-Sannaa N, Bah M, Bröhl K, Depienne C, Dorison N, Doummar D, Ehmke N, Elbendary HM, Gorokhova S, Héron D, Horn D, James K, Keren B, Kuechler A, Ismail S, Issa MY, Marey I, Mayer M, McEvoy-Venneri J, Megarbane A, Mignot C, Mohamed S, Nava C, Philip N, Ravix C, Rolfs A, Sadek AA, Segebrecht L, Stanley V, Trautman C, Valence S, Villard L, Wieland T, Engels H, Strom TM, Zaki MS, Gleeson JG, Lüdecke HJ, Bauer P, Wieczorek D.
Bramswig NC, et al.
Hum Genet. 2018 Sep;137(9):753-768. doi: 10.1007/s00439-018-1929-5. Epub 2018 Aug 23.
Hum Genet. 2018.
PMID: 30167850
Free PMC article.
So far, biallelic NALCN and UNC80 variants have been described in a small number of individuals leading to infantile hypotonia, psychomotor retardation, and characteristic facies 1 (IHPRF1, OMIM 615419) and 2 (IHPRF2, OMIM 616801), respec …
So far, biallelic NALCN and UNC80 variants have been described in a small number of individuals leading to infantile hypotonia …
Item in Clipboard
Cite
Cite