[1] Milani D, Manzoni FM, Pezzani L, et al. Rubinstein-Taybi syndrome: clinical features, genetic basis, diagnosis, and management[J]. Ital J Pediatr,2015,41:4.
[2] Kamenarova K, Simeonov E, Tzveova R, et al. Identification of a novel de novo mutation of CREBBP in a patient with Rubinstein-Taybi syndrome by targeted next-generation sequencing: a case report [J]. Hum Pathol, 2016, 47(1): 144-149.
[3] Wincent J, Luthman A, van Belzen M, et al. CREBBP and EP300 mutational spectrum and clinical presentations in a cohort of Swedish patients with Rubinstein-Taybi syndrome [J]. Mol Genet Genomic Med, 2015, 4(1): 39-45.
[4] Negri G,Magini P,Milani D,et al.From whole gene deletion to point mutations of EP300-positive Rubinstein-Taybi patients: new insights into the mutational spectrum and peculiar clinical hallmarks[J].Human Mutation,2016,37(2):175-183.
[5] Korzus E. Rubinstein-Taybi Syndrome and epigenetic alterations[J]. Adv Exp Med Biol,2017,978:39-62.
[6] Yagihashi T, Kosaki K, Okamoto N, et al. Age-dependent change in behavioral feature in Rubinstein-Taybi syndrome[J]. Congenit Anom,2012,52:82-86.
[7] Papathemeli D,Schulzendorff N,Kohlhase J,et al. Pilomatricomas in Rubinstein-Taybi syndrome[J]. J Dtsch Dermatol Ges,2015,13(3):240-242.
[8] Jagla M,Tomasik TB,Czyz O,et al.Rubinstein-Taybi because of a novel EP300 mutation with novel clinical findings[J].Clin Dysmorphol,2017,26(3):170-174.
[9] 廖若西,姜艳,王鸥,等.CREBBP基因突变导致的伴有双侧股骨头坏死的Rubinstein-Taybi综合征1例[J].中华骨质疏松和骨矿盐疾病杂志,2015, 8(4):343-346.
[10] Saettini F,Moratto D,Grioni A,et al.A novel EP300 mutation associated with Rubinstein-Taybi syndrome type 2 presenting as combined immunodeficiency[J].Pediatric Allergy and Immunology,2018,29(7):776-781.
[11] Johannesen EJ,Williams T,Miller DC.Synchronous ovarian and endometrial carcinomas in a patient with Rubinstein-Taybi syndrome: a case report and literature review[J].Int J Gynecol Pathol,2015,34(2):132-135.
[12] Beets L, Rodrguez-Fonseca C, Hennekam RC. Growth charts for individuals with Rubinstein-Taybi syndrome[J]. Am J Med Genet A, 2014,164(9):2300-2309.
[13] Chiang PW, Lee NC, Chien N, et al. Somatic and germ-line mosaicism in Rubinstein-Taybi syndrome[J]. Am J Med Genet A,2009,149A:1463-1467.
[14] Bartsch O, Kress W, Kempf O, et al. Inheritance and variable expression in Rubinstein-Taybi syndrome[J]. Am J Med Genet A,2010,152A:2254-2261.
[15] Yagihashi T, Kosaki K, Okamoto N, et al. Age-dependent change in behavioral feature in Rubinstein-Taybi syndrome[J]. Congenit Anom,2012,52:82-86. |
