Literature DB >> 1415341

Callosal agenesis, iris coloboma, and megacolon in a Brazilian boy with Rubinstein-Taybi syndrome.

M L Guion-Almeida1, A Richieri-Costa.   

Abstract

We report on a Brazilian boy with Rubinstein-Taybi syndrome (RTS) with callosal agenesis, iris coloboma, and megacolon. To our knowledge, callosal agenesis, iris coloboma, and megacolon are unusual signs within the clinical spectrum of RTS, and the present association is apparently underscribed.

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Year:  1992        PMID： 1415341     DOI： 10.1002/ajmg.1320430604

Source DB:  PubMed          Journal:  Am J Med Genet        ISSN： 0148-7299


  10 in total

1.  Cervical artery dissection in a young patient with Rubinstein-Taybi syndrome.

Authors:  S Fischer; H Bäzner; H Henkes
Journal:  Clin Neuroradiol       Date:  2011-09-20       Impact factor: 3.649

Review 2.  Ocular coloboma: a reassessment in the age of molecular neuroscience.

Authors:  C Y Gregory-Evans; M J Williams; S Halford; K Gregory-Evans
Journal:  J Med Genet       Date:  2004-12       Impact factor: 6.318

3.  A genetic screen identifies putative targets and binding partners of CREB-binding protein in the developing Drosophila eye.

Authors:  Jason Anderson; Rohan Bhandari; Justin P Kumar
Journal:  Genetics       Date:  2005-07-05       Impact factor: 4.562

Review 4.  Absence makes the search grow longer.

Authors:  W B Dobyns
Journal:  Am J Hum Genet       Date:  1996-01       Impact factor: 11.025

Review 5.  Ocular features in Rubinstein-Taybi syndrome: investigation of 24 patients and review of the literature.

Authors:  M M van Genderen; G F Kinds; F C Riemslag; R C Hennekam
Journal:  Br J Ophthalmol       Date:  2000-10       Impact factor: 4.638

6.  CREB binding protein functions during successive stages of eye development in Drosophila.

Authors:  Justin P Kumar; Tazeen Jamal; Alex Doetsch; F Rudolf Turner; Joseph B Duffy
Journal:  Genetics       Date:  2004-10       Impact factor: 4.562

7.  A case of Rubinstein-Taybi Syndrome with a CREB-binding protein gene mutation.

Authors:  Se Hee Kim; Byung Chan Lim; Jong Hee Chae; Ki Joong Kim; Yong Seung Hwang
Journal:  Korean J Pediatr       Date:  2010-06-23

Review 8.  The contribution of associated congenital anomalies in understanding Hirschsprung's disease.

Authors:  S W Moore
Journal:  Pediatr Surg Int       Date:  2006-03-04       Impact factor: 1.827

9.  Brain size regulations by cbp haploinsufficiency evaluated by in-vivo MRI based volumetry.

Authors:  Juan C Ateca-Cabarga; Alejandro Cosa; Vicente Pallarés; José P López-Atalaya; Ángel Barco; Santiago Canals; David Moratal
Journal:  Sci Rep       Date:  2015-11-06       Impact factor: 4.379

Review 10.  Rubinstein-Taybi Syndrome: A Model of Epigenetic Disorder.

Authors:  Julien Van Gils; Frederique Magdinier; Patricia Fergelot; Didier Lacombe
Journal:  Genes (Basel)       Date:  2021-06-24       Impact factor: 4.096
  10 in total

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