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Quoted phrase not found in phrase index: "Hypotonia, infantile, with psychomotor retardation and characteristic facies 1"
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Identification of a novel pathogenic TBCK variant in a Chinese patient with infantile hypotonia with psychomotor retardation and characteristic facies type 3 (IHPRF3): a case report.
Tan HY, Wang B, Song YZ. Tan HY, et al. BMC Pediatr. 2022 Oct 22;22(1):612. doi: 10.1186/s12887-022-03672-w. BMC Pediatr. 2022. PMID: 36273129 Free PMC article.
BACKGROUND: Infantile hypotonia with psychomotor retardation and characteristic facies type 3(IHPRF3) (OMIM #616,900) is an autosomal recessive disorder caused by biallelic pathogenic variants of the TBCK gene, and to date, this disease w …
BACKGROUND: Infantile hypotonia with psychomotor retardation and characteristic facies type 3(IHPR …
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 …