Literature DB >> 7606318

Craniofacial abnormalities, agenesis of the corpus callosum, polysyndactyly and abnormal skin and gut development--the Curry Jones syndrome.

I K Temple1, D M Eccles, R M Winter, M Baraitser, S B Carr, D Shortland, M C Jones, C Curry.   

Abstract

Five children are described with a striking, asymmetric facial appearance, craniosynostosis, preaxial polysyndactyly, agenesis of the corpus callosum and unusual skin with streaky areas of atrophy. The gut and mucous membranes are involved in two patients. This paper includes two patients described by Gorlin (1990) under the designation of the Curry Jones syndrome.

Entities:  

Mesh：

Year:  1995        PMID： 7606318

Source DB:  PubMed          Journal:  Clin Dysmorphol        ISSN： 0962-8827            Impact factor:   0.816


  7 in total

Review 1.  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

Review 2.  Clinical, genetic and imaging findings identify new causes for corpus callosum development syndromes.

Authors:  Timothy J Edwards; Elliott H Sherr; A James Barkovich; Linda J Richards
Journal:  Brain       Date:  2014-01-28       Impact factor: 13.501

3.  Zac1 (Lot1), a potential tumor suppressor gene, and the gene for epsilon-sarcoglycan are maternally imprinted genes: identification by a subtractive screen of novel uniparental fibroblast lines.

Authors:  G Piras; A El Kharroubi; S Kozlov; D Escalante-Alcalde; L Hernandez; N G Copeland; D J Gilbert; N A Jenkins; C L Stewart
Journal:  Mol Cell Biol       Date:  2000-05       Impact factor: 4.272

Review 4.  Genetics of anophthalmia and microphthalmia. Part 2: Syndromes associated with anophthalmia-microphthalmia.

Authors:  Anne Slavotinek
Journal:  Hum Genet       Date:  2018-10-30       Impact factor: 4.132

5.  Gastrointestinal disorders in Curry-Jones syndrome: Clinical and molecular insights from an affected newborn.

Authors:  Kristen Wigby; Stephen R F Twigg; Ryan Broderick; Katherine P Davenport; Andrew O M Wilkie; Stephen W Bickler; Marilyn C Jones
Journal:  Am J Med Genet A       Date:  2017-04-06       Impact factor: 2.802

6.  Happle-Tinschert, Curry-Jones and segmental basal cell naevus syndromes, overlapping disorders caused by somatic mutations in hedgehog signalling genes: the mosaic hedgehog spectrum.

Authors:  M-L Lovgren; Y Zhou; G Hrčková; T Dallos; I Colmenero; S R F Twigg; C Moss
Journal:  Br J Dermatol       Date:  2019-05-23       Impact factor: 11.113

7.  A Recurrent Mosaic Mutation in SMO, Encoding the Hedgehog Signal Transducer Smoothened, Is the Major Cause of Curry-Jones Syndrome.

Authors:  Stephen R F Twigg; Robert B Hufnagel; Kerry A Miller; Yan Zhou; Simon J McGowan; John Taylor; Jude Craft; Jenny C Taylor; Stephanie L Santoro; Taosheng Huang; Robert J Hopkin; Angela F Brady; Jill Clayton-Smith; Carol L Clericuzio; Dorothy K Grange; Leopold Groesser; Christian Hafner; Denise Horn; I Karen Temple; William B Dobyns; Cynthia J Curry; Marilyn C Jones; Andrew O M Wilkie
Journal:  Am J Hum Genet       Date:  2016-05-26       Impact factor: 11.025
  7 in total

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