Journals / Anadolu Kardiyoloji Dergisi / 2012 / Cilt: 12 - Sayı: 6

Char syndrome, a familial form of patent ductus arteriosus, with a new finding: hyperplasia of the 3rd finger

Ailesel patent duktus arteriyozus: Char sendromu ve yeni bir bulgusu; 3. parmak hipoplazisi

Pages
523–524
Publication Date
2022-10-10
DOI
—
🏛️Bibliographic metadata and full text access for this article are provided via DergiPark.
DergiPark Record ↗
🔖

Cite This Article

BABAOĞLU, K., ORUÇ, M., GELB, B. D., GÜNLEMEZ, A. (2022). Char syndrome, a familial form of patent ductus arteriosus, with a new finding: hyperplasia of the 3rd finger. Anadolu Kardiyoloji Dergisi, Cilt: 12 - Sayı: 6, 523–524. https://ajindex.com/articles/436373

📄 Full Text PDF Viewer

📄

PDF görüntüleyici hazırlanıyor...

References (3)

  1. Char F. Peculiar facies with short philtrum, duck-bill lips, ptosis and low-set ears-a new syndrome? Birth Defects Orig Artic Ser 1978; 14: 303-5
  2. Zhao F, Weismann CG, Satoda M, Pierpont ME, Sweeney E, Thompson EM, et al. Novel TFAP2B mutations that cause Char syndrome provide a genotype- phenotype correlation. Am J Hum Genet 2001; 69: 695-703. [CrossRef] 3. Moore P, Brook MM, Heymann M. Patent ductus arteriosus and aortopulmonary window, In: Allen HD, Driscoll DJ, Shaddy RE, Feltes TF, editors. Moss and Adams' Heart Disease in Infants, Children, and Adolescents: Including the Fetus and Young Adults. 7th edition. Philadelphia, PA; Lippincott Williams & Wilkins: 2008. p.683-701
  3. Bertola DR, Kim CA, Sugayama SM, Utagawa CY, Albano LM, Gonzalez CH. Further delineation of Char syndrome. Pediatr Int 2000; 42: 85-8. [CrossRef] 5. Mani A, Radhakrishnan J, Farhi A, Carew KS, Warnes CA, Nelson-Williams C, et al. Syndromic patent ductus arteriosus: evidence for haploinsufficient TFAP2B mutations and identification of a linked sleep disorder. Proc Natl Acad Sci USA 2005; 102: 2975-9. [CrossRef] 6. Satoda M, Zhao F, Diaz GA, Burn J, Goodship J, Davidson HR, et al. Mutations in TFAP2B cause Char syndrome, a familial form of patent ductus arteriosus. Nat Genet 2000; 25: 42-6. [CrossRef] 7. Zannolli R, Mostardini R, Matera M, Pucci L, Gelb BD, Morgese G. Char syndrome: an additional family with polythelia, a new finding. Am J Med Genet 2000; 95: 201-3. [CrossRef] 8. 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; 99: 3036-42. [CrossRef]