Literature DB >> 420637

Ocular findings in thoracic-pelvic-phalangeal dystrophy.

A W Allen, J B Moon, K R Hovland, D S Minckler.   

Abstract

Two unrelated patients with thoracic-pelvic-phalangeal dystrophy syndrome had retinal degeneration. A pathologic study of both eyes from one of the patients showed severe degeneration of the peripheral retina, with predominantly cone-type cells remaining.

Entities:  

Mesh：

Year:  1979        PMID： 420637     DOI： 10.1001/archopht.1979.01020010239010

Source DB:  PubMed          Journal:  Arch Ophthalmol        ISSN： 0003-9950


  4 in total

1.  The intraflagellar transport protein ift80 is essential for photoreceptor survival in a zebrafish model of jeune asphyxiating thoracic dystrophy.

Authors:  Leah M Hudak; Shannon Lunt; Chi-Hsuan Chang; Ethan Winkler; Halley Flammer; Michael Lindsey; Brian D Perkins
Journal:  Invest Ophthalmol Vis Sci       Date:  2010-03-05       Impact factor: 4.799

2.  A syndrome of severe mental retardation, spasticity, and tapetoretinal degeneration linked to chromosome 15q24.

Authors:  S J Mitchell; D P McHale; D A Campbell; N J Lench; R F Mueller; S E Bundey; A F Markham
Journal:  Am J Hum Genet       Date:  1998-05       Impact factor: 11.025

3.  Jeune syndrome: description of 13 cases and a proposal for follow-up protocol.

Authors:  J de Vries; J L Yntema; C E van Die; N Crama; E A M Cornelissen; B C J Hamel
Journal:  Eur J Pediatr       Date:  2009-05-10       Impact factor: 3.183

4.  Exome sequencing identifies DYNC2H1 mutations as a common cause of asphyxiating thoracic dystrophy (Jeune syndrome) without major polydactyly, renal or retinal involvement.

Authors:  Miriam Schmidts; Heleen H Arts; Ernie M H F Bongers; Zhimin Yap; Machteld M Oud; Dinu Antony; Lonneke Duijkers; Richard D Emes; Jim Stalker; Jan-Bart L Yntema; Vincent Plagnol; Alexander Hoischen; Christian Gilissen; Elisabeth Forsythe; Ekkehart Lausch; Joris A Veltman; Nel Roeleveld; Andrea Superti-Furga; Anna Kutkowska-Kazmierczak; Erik-Jan Kamsteeg; Nursel Elçioğlu; Merel C van Maarle; Luitgard M Graul-Neumann; Koenraad Devriendt; Sarah F Smithson; Diana Wellesley; Nienke E Verbeek; Raoul C M Hennekam; Hulya Kayserili; Peter J Scambler; Philip L Beales; Nine Vam Knoers; Ronald Roepman; Hannah M Mitchison
Journal:  J Med Genet       Date:  2013-03-01       Impact factor: 5.941
  4 in total

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