Literature DB >> 12116212

Probable identity of Goltz syndrome and Van Allen-Myhre syndrome: evidence from phenotypic evolution.

Susan Hancock1, Peter Pryde, Christine Fong, Jane E Brazy, Katharina Stewart, Amy Favour, Richard M Pauli.   

Abstract

We describe a girl who was diagnosed with split foot-split hand anomaly prenatally, in whom at birth the diagnosis of Van Allen-Myhre syndrome was made, and who at 8 months of age was recognized to have Goltz syndrome. Based on the evolution of clinical features in this infant, we suggest that our case, as well as that reported by Van Allen and Myhre, is an example of unusually severe Goltz syndrome. Copyright 2002 Wiley-Liss, Inc.

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Year:  2002        PMID: 12116212     DOI: 10.1002/ajmg.10456

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


  4 in total

1.  Goltz syndrome: report of two severe cases.

Authors:  Riddell W Scott; Eniko K Pivnick; Stacy H Dowell; James W Eubanks; Eunice Y Huang; Ignatia B Van den Veyver; Xiaoling Wang
Journal:  BMJ Case Rep       Date:  2009-03-17

2.  Deletion of mouse Porcn blocks Wnt ligand secretion and reveals an ectodermal etiology of human focal dermal hypoplasia/Goltz syndrome.

Authors:  Jared J Barrott; Gabriela M Cash; Aaron P Smith; Jeffery R Barrow; L Charles Murtaugh
Journal:  Proc Natl Acad Sci U S A       Date:  2011-07-18       Impact factor: 11.205

Review 3.  Drugging the cancer stem cell compartment: lessons learned from the hedgehog and Wnt signal transduction pathways.

Authors:  Michael E Dodge; Lawrence Lum
Journal:  Annu Rev Pharmacol Toxicol       Date:  2011       Impact factor: 13.820

4.  Deletion of Porcn in mice leads to multiple developmental defects and models human focal dermal hypoplasia (Goltz syndrome).

Authors:  Wei Liu; Timothy M Shaver; Alfred Balasa; M Cecilia Ljungberg; Xiaoling Wang; Shu Wen; Hoang Nguyen; Ignatia B Van den Veyver
Journal:  PLoS One       Date:  2012-03-06       Impact factor: 3.240

  4 in total

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