[1] Brioude F, Toutain A, Giabicani E, et al. Overgrowth syndromes - clinical and molecular aspects and tumour risk[J]. Nat Rev Endocrinol, 2019, 15(5):299-311. [2] Malan V,Rajan V, Thomas S, et al. Distinct effects of allelic NFIX mutations on nonsense-mediated mRNA decay engender either a Sotos-like or a Marshall-Smith syndrome[J]. Am J Hum Genet, 2010, 87(2):189-198. [3] Priolo M, Schanze D, Tatton-Brown K,et al. Further delineation of Malan syndrome[J]. Hum Mutat, 2018, 39(9):1226-1237. [4] Tabata K, Iida A, Takeshita E, et al. A novel pathogenic NFIX variant in a Malan syndrome patient associated with hindbrain overcrowding[J]. J Neurol Sci, 2020, 412:116758. [5] Macchiaiolo M, Panfili FM, Vecchio D, et al. A deep phenotyping experience:Up to date in management and diagnosis of Malan syndrome in a single center surveillance report[J]. Orphanet J Rare Dis, 2022, 17(1):235. [6] Dong HY,Zeng H, Hu YQ, et al. 19p13.2 Microdeletion including NFIX associated with overgrowth and intellectual disability suggestive of Malan syndrome[J]. Mol Cytogenet, 2016, 9:71. [7] 禹超南,吕楠,李东晓,等. NFIX 基因新发变异致Malan 综合征1 例并文献复习[J]. 中国临床案例成果数据库, 2022, 4(1):e06082. Yu CN,Lyu N, Li DX, et al. A case report and literature review of Malan syndrome caused by a new gene variation of NFIX[J]. Chinese Medical Case Repository, 2022, 4(1):e06082.(in Chinese) [8] Yan H, Shi Z, Wu Y, et al. Targeted next generation sequencing in 112 Chinese patients with intellectual disability/developmental delay:Novel mutations and candidate gene[J]. BMC Med Genet, 2019, 20(1):80. [9] Sihombing NRB, Winarni TI, Bokhoven Hv, et al. Pathogenic variant in NFIX gene affecting three sisters due to paternal mosaicism[J]. Am J Med Genet A, 2020, 182(11):2731-2736. [10] Hancarova M, Havlovicova M, Putzova M, et al. Parental gonadal but not somatic mosaicism leading to de novo NFIX variants shared by two brothers with Malan syndrome[J]. Am J Med Genet A, 2019, 179(10):2119-2123. [11] Bellucco FT, Mello CB, Meloni VA, et al. Malan syndrome in a patient with 19p13.2p13.12 deletion encompassing NFIX and CACNA1A genes:Case report and review of the literature[J]. Mol Genet Genomic Med, 2019, 7(12):e997. [12] Jezela-Stanek A, Kucharczyk M, Falana K, et al. Malan syndrome (Sotos syndrome 2) in two patients with 19p13.2 deletion encompassing NFIX gene and novel NFIX sequence variant[J]. Biomed Pap Med Fac Univ Palacky Olomouc Czech Repub, 2016, 160(1):161-167. [13] Richards S, Aziz N, Bale S, et al. Standards and guidelines for the interpretation of sequence variants:A joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology[J]. Genet Med, 2015, 17(5):405-424. [14] Gurrieri F, Cavaliere ML, Wischmeijer A, et al. NFIX mutations affecting the DNA-binding domain cause a peculiar overgrowth syndrome (Malan syndrome):A new patients series[J]. Eur J Med Genet, 2015, 58(9):488-491. [15] Harris L,Zalucki O, Clément O, et al. Neurogenic differentiation by hippocampal neural stem and progenitor cells is biased by NFIX expression[J]. Development, 2018, 145(3):dev155689. [16] Rossi G,Antonini S, Bonfanti C, et al. NFIX Regulates Temporal progression of muscle regeneration through modulation of myostatin expression[J]. Cell Rep, 2016, 14(9):2238-2249. [17] Driller K,Pagenstecher A, Uhl M, et al. Nuclear factorr IX deficiency causes brain malformation and severe skeletal defects[J]. Mol Cell Biol, 2007, 27(10):3855-3867. [18] Mulder PA,Balkom IDCv, Landlust AM, et al. Development, behaviour and sensory processing in Marshall-Smith syndrome and Malan syndrome:Phenotype comparison in two related syndromes[J]. J Intellect Disabil Res, 2020, 64(12):956-969. [19] Bupp C, Junewick J, Hess JL. A de-novo NFIX mutation causes a case of neonatal lethal Marshall-Smith syndrome[J]. Clin Dysmorphol, 2020, 29(4):214-216. [20] Herman TE, Siegel MJ. Marshall-Smith syndrome[J]. J Perinatol, 2015, 35(4):307-309. |