[1]
Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Amemiya A, Gelb BD. Char Syndrome. GeneReviews(®). 1993:():
[PubMed PMID: 20301285]
[2]
Slavotinek A, Clayton-Smith J, Super M. Familial patent ductus arteriosus: a further case of CHAR syndrome. American journal of medical genetics. 1997 Aug 8:71(2):229-32
[PubMed PMID: 9217229]
Level 3 (low-level) evidence
[3]
Nyboe D, Kreiborg S, Darvann T, Dunø M, Nissen KR, Hove HB. A study of familial Char syndrome involving the TFAP2B gene with a focus on facial shape characteristics. Clinical dysmorphology. 2018 Jul:27(3):71-77. doi: 10.1097/MCD.0000000000000222. Epub
[PubMed PMID: 29683802]
[4]
Massaad E, Tfayli H, Awwad J, Nabulsi M, Farra C. Char Syndrome a novel mutation and new insights: A clinical report. European journal of medical genetics. 2019 Dec:62(12):103607. doi: 10.1016/j.ejmg.2018.12.012. Epub 2018 Dec 21
[PubMed PMID: 30579973]
[5]
Satoda M, Zhao F, Diaz GA, Burn J, Goodship J, Davidson HR, Pierpont ME, Gelb BD. Mutations in TFAP2B cause Char syndrome, a familial form of patent ductus arteriosus. Nature genetics. 2000 May:25(1):42-6
[PubMed PMID: 10802654]
[6]
Raap M, Gierendt L, Kreipe HH, Christgen M. Transcription factor AP-2beta in development, differentiation and tumorigenesis. International journal of cancer. 2021 Sep 15:149(6):1221-1227. doi: 10.1002/ijc.33558. Epub 2021 Mar 26
[PubMed PMID: 33720400]
[7]
Wang J, Ji W, Zhu D, Wang W, Chen Y, Zhang Z, Li F. Tfap2b mutation in mice results in patent ductus arteriosus and renal malformation. The Journal of surgical research. 2018 Jul:227():178-185. doi: 10.1016/j.jss.2018.02.038. Epub 2018 Mar 19
[PubMed PMID: 29804851]
[8]
Mani A, Radhakrishnan J, Farhi A, Carew KS, Warnes CA, Nelson-Williams C, Day RW, Pober B, State MW, Lifton RP. Syndromic patent ductus arteriosus: evidence for haploinsufficient TFAP2B mutations and identification of a linked sleep disorder. Proceedings of the National Academy of Sciences of the United States of America. 2005 Feb 22:102(8):2975-9
[PubMed PMID: 15684060]
[9]
Zhao F, Weismann CG, Satoda M, Pierpont ME, Sweeney E, Thompson EM, Gelb BD. Novel TFAP2B mutations that cause Char syndrome provide a genotype-phenotype correlation. American journal of human genetics. 2001 Oct:69(4):695-703
[PubMed PMID: 11505339]
[10]
Khetyar M, Syrris P, Tinworth L, Abushaban L, Carter N. Novel TFAP2B mutation in nonsyndromic patent ductus arteriosus. Genetic testing. 2008 Sep:12(3):457-9. doi: 10.1089/gte.2008.0015. Epub
[PubMed PMID: 18752453]
[11]
Tanasubsinn N, Sittiwangkul R, Pongprot Y, Kawasaki K, Ohazama A, Sastraruji T, Kaewgahya M, Kantaputra PN. TFAP2B mutation and dental anomalies. Journal of human genetics. 2017 Aug:62(8):769-775. doi: 10.1038/jhg.2017.37. Epub 2017 Apr 6
[PubMed PMID: 28381879]
[12]
Bertola DR, Kim CA, Sugayama SM, Utagawa CY, Albano LM, Gonzalez CH. Further delineation of Char syndrome. Pediatrics international : official journal of the Japan Pediatric Society. 2000 Feb:42(1):85-8
[PubMed PMID: 10703243]
[13]
Babaoğlu K, Oruç M, Günlemez A, Gelb BD. Char syndrome, a familial form of patent ductus arteriosus, with a new finding: hypoplasia [corrected] of the 3rd finger. Anadolu kardiyoloji dergisi : AKD = the Anatolian journal of cardiology. 2012 Sep:12(6):523-4. doi: 10.5152/akd.2012.165. Epub 2012 Jun 22
[PubMed PMID: 22728731]
[14]
Satoda M, Pierpont ME, Diaz GA, Bornemeier RA, Gelb BD. Char syndrome, an inherited disorder with patent ductus arteriosus, maps to chromosome 6p12-p21. Circulation. 1999 Jun 15:99(23):3036-42
[PubMed PMID: 10368122]
[15]
Galzerano D, Pergola V, Eltayeb A, Ludovica F, Arbili L, Tashkandi L, Michele SD, Barchitta A, Parato MV, Salvo GD. Echocardiography in Simple Congenital Heart Diseases: Guiding Adult Patient Management. Journal of cardiovascular echography. 2023 Oct-Dec:33(4):171-182. doi: 10.4103/jcecho.jcecho_52_23. Epub 2024 Feb 26
[PubMed PMID: 38486692]
[16]
Ji W, Benson MA, Bhattacharya S, Chen Y, Hu J, Li F. Characterization of transcription factor AP-2 β mutations involved in familial isolated patent ductus arteriosus suggests haploinsufficiency. The Journal of surgical research. 2014 May 15:188(2):466-472. doi: 10.1016/j.jss.2014.01.015. Epub 2014 Jan 12
[PubMed PMID: 24507797]
[17]
Nguyen TT, Mitchell JM, Kiel MD, Kenny CP, Li H, Jones KL, Cornell RA, Williams TJ, Nichols JT, Van Otterloo E. TFAP2 paralogs regulate midfacial development in part through a conserved ALX genetic pathway. Development (Cambridge, England). 2024 Jan 1:151(1):. doi: 10.1242/dev.202095. Epub 2024 Jan 2
[PubMed PMID: 38063857]
[18]
Lemmers P, Vijlbrief D, Benders M, Alderliesten T, Veldhuis M, Baerts W, Koopman-Esseboom C, Groenendaal F, van Bel F. Delayed Surgical Closure of the Patent Ductus Arteriosus: Does the Brain Pay the Price? The Journal of pediatrics. 2023 Mar:254():25-32. doi: 10.1016/j.jpeds.2022.10.010. Epub 2022 Oct 12
[PubMed PMID: 36241053]
[19]
Mahmoud H, Youssef T, Cinteza E, Voicu C, Balan A, Margarint I, Filip C, Nicolae G, Duica G, Nicolescu A, Barascu I, Cirstoveanu C. Ductus Arteriosus Stenting in Newborns - Transcatheter Approach as a Bridge Therapy for Corrective Surgery. Maedica. 2022 Mar:17(1):205-210. doi: 10.26574/maedica.2022.17.1.205. Epub
[PubMed PMID: 35733737]
[20]
Nakai A, Fujiyama T, Nagata N, Kashiwagi M, Ikkyu A, Takagi M, Tatsuzawa C, Tanaka K, Kakizaki M, Kanuka M, Kawano T, Mizuno S, Sugiyama F, Takahashi S, Funato H, Sakurai T, Yanagisawa M, Hayashi Y. Sleep Architecture in Mice Is Shaped by the Transcription Factor AP-2β. Genetics. 2020 Nov:216(3):753-764. doi: 10.1534/genetics.120.303435. Epub 2020 Sep 2
[PubMed PMID: 32878901]
[21]
Vaughan CJ, Basson CT. Molecular determinants of atrial and ventricular septal defects and patent ductus arteriosus. American journal of medical genetics. 2000 Winter:97(4):304-9
[PubMed PMID: 11376442]
[22]
Cillo F, Coppola E, Habetswallner F, Cecere F, Pignata L, Toriello E, De Rosa A, Grilli L, Ammendola A, Salerno P, Romano R, Cirillo E, Merla G, Riccio A, Pignata C, Giardino G. Understanding the Variability of 22q11.2 Deletion Syndrome: The Role of Epigenetic Factors. Genes. 2024 Feb 29:15(3):. doi: 10.3390/genes15030321. Epub 2024 Feb 29
[PubMed PMID: 38540380]
Level 3 (low-level) evidence
[23]
Gil Rosas M, Centola C, Torres M, Mouguelar VS, David AP, Piga EJ, Gomez D, Calcaterra NB, Armas P, Coux G. The transcription of the main gene associated with Treacher-Collins syndrome (TCOF1) is regulated by G-quadruplexes and cellular nucleic acid binding protein (CNBP). Scientific reports. 2024 Mar 29:14(1):7472. doi: 10.1038/s41598-024-58255-9. Epub 2024 Mar 29
[PubMed PMID: 38553547]
[24]
Lacombe D, Bloch-Zupan A, Bredrup C, Cooper EB, Houge SD, García-Miñaúr S, Kayserili H, Larizza L, Lopez Gonzalez V, Menke LA, Milani D, Saettini F, Stevens CA, Tooke L, Van der Zee JA, Van Genderen MM, Van-Gils J, Waite J, Adrien JL, Bartsch O, Bitoun P, Bouts AHM, Cueto-González AM, Dominguez-Garrido E, Duijkers FA, Fergelot P, Halstead E, Huisman SA, Meossi C, Mullins J, Nikkel SM, Oliver C, Prada E, Rei A, Riddle I, Rodriguez-Fonseca C, Rodríguez Pena R, Russell J, Saba A, Santos-Simarro F, Simpson BN, Smith DF, Stevens MF, Szakszon K, Taupiac E, Totaro N, Valenzuena Palafoll I, Van Der Kaay DCM, Van Wijk MP, Vyshka K, Wiley S, Hennekam RC. Diagnosis and management in Rubinstein-Taybi syndrome: first international consensus statement. Journal of medical genetics. 2024 May 21:61(6):503-519. doi: 10.1136/jmg-2023-109438. Epub 2024 May 21
[PubMed PMID: 38471765]
Level 3 (low-level) evidence
[25]
Edward HL, D'Gama AM, Wojcik MH, Brownstein CA, Kenna MA, Grant PE, Majzoub JA, Agrawal PB. A novel missense mutation in TFAP2B associated with Char syndrome and central diabetes insipidus. American journal of medical genetics. Part A. 2019 Jul:179(7):1299-1303. doi: 10.1002/ajmg.a.61150. Epub 2019 Apr 22
[PubMed PMID: 31012281]