Literature DB >> 16444073

Hay-wells syndrome of ectodermal dysplasia.

M L Kulkarni1, Shilpa Deshmukh, Deepa Matani, K Gayatri.   

Abstract

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Year:  2006        PMID： 16444073     DOI： 10.1007/BF02758272

Source DB:  PubMed          Journal:  Indian J Pediatr        ISSN： 0019-5456            Impact factor:   1.967


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  3 in total

1.  The syndrome of ankyloblepharon, ectodermal defects and cleft lip and palate: an autosomal dominant condition.

Authors:  R J Hay; R S Wells
Journal:  Br J Dermatol       Date:  1976-03       Impact factor: 9.302

2.  Hay-Wells syndrome is caused by heterozygous missense mutations in the SAM domain of p63.

Authors:  J A McGrath; P H Duijf; V Doetsch; A D Irvine; R de Waal ; K R Vanmolkot; V Wessagowit; A Kelly; D J Atherton; W A Griffiths; S J Orlow; A van Haeringen; M G Ausems; A Yang; F McKeon; M A Bamshad; H G Brunner; B C Hamel; H van Bokhoven
Journal:  Hum Mol Genet       Date:  2001-02-01       Impact factor: 6.150

3.  P63 alpha mutations lead to aberrant splicing of keratinocyte growth factor receptor in the Hay-Wells syndrome.

Authors:  Alexey Fomenkov; Yi-Ping Huang; Ozlem Topaloglu; Anna Brechman; Motonobo Osada; Tanya Fomenkova; Eugene Yuriditsky; Barry Trink; David Sidransky; Edward Ratovitski
Journal:  J Biol Chem       Date:  2003-04-10       Impact factor: 5.157
  3 in total

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