Literature DB >> 1951448

Townes-Brocks syndrome in two mentally retarded youngsters.

T H Cameron1, A M Lachiewicz, A S Aylsworth.   

Abstract

We report on 2 children with Townes-Brocks syndrome (TBS) and mental retardation. One child had mild hearing loss, but the other only had hearing loss at 8000 Hz. These cases suggest that there may be an increased incidence of mental retardation in individuals with TBS.

Entities:  

Mesh：

Year:  1991        PMID： 1951448     DOI： 10.1002/ajmg.1320410102

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


  7 in total

Review 1.  Townes-Brocks syndrome.

Authors:  C M Powell; R C Michaelis
Journal:  J Med Genet       Date:  1999-02       Impact factor: 6.318

2.  Molecular analysis of SALL1 mutations in Townes-Brocks syndrome.

Authors:  J Kohlhase; P E Taschner; P Burfeind; B Pasche; B Newman; C Blanck; M H Breuning; L P ten Kate; P Maaswinkel-Mooy; B Mitulla; J Seidel; S J Kirkpatrick; R M Pauli; D S Wargowski; K Devriendt; W Proesmans; O Gabrielli; G V Coppa; E Wesby-van Swaay; R C Trembath; A A Schinzel; W Reardon; E Seemanova; W Engel
Journal:  Am J Hum Genet       Date:  1999-02       Impact factor: 11.025

3.  Dandy-Walker malformation, genitourinary abnormalities, and intellectual disability in two families.

Authors:  Maha S Zaki; Amira Masri; Anne Gregor; Joseph G Gleeson; Rasim Ozgur Rosti
Journal:  Am J Med Genet A       Date:  2015-06-24       Impact factor: 2.802

4.  A family with Townes-Brocks syndrome with congenital hypothyroidism and a novel mutation of the SALL1 gene.

Authors:  Won Ik Choi; Ji Hye Kim; Han Wook Yoo; Sung Hee Oh
Journal:  Korean J Pediatr       Date:  2010-12-31

5.  Loss of the Sall3 gene leads to palate deficiency, abnormalities in cranial nerves, and perinatal lethality.

Authors:  M Parrish; T Ott; C Lance-Jones; G Schuetz; A Schwaeger-Nickolenko; A P Monaghan
Journal:  Mol Cell Biol       Date:  2004-08       Impact factor: 4.272

6.  Whole transcriptome analysis of a reversible neurodegenerative process in Drosophila reveals potential neuroprotective genes.

Authors:  María José Ferreiro; Naiara Rodríguez-Ezpeleta; Coralia Pérez; Michael Hackenberg; Ana María Aransay; Rosa Barrio; Rafael Cantera
Journal:  BMC Genomics       Date:  2012-09-15       Impact factor: 3.969

7.  Sall1 regulates cortical neurogenesis and laminar fate specification in mice: implications for neural abnormalities in Townes-Brocks syndrome.

Authors:  Susan J Harrison; Ryuichi Nishinakamura; Kevin R Jones; A Paula Monaghan
Journal:  Dis Model Mech       Date:  2011-12-22       Impact factor: 5.758
  7 in total

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