Literature DB >> 12989297

[A correlated abnormality of the mandible and extremities (dysostosis acrofacialis)].

H WEYERS.   

Abstract

Entities:  

Keywords:  HYPERTELORISM

Mesh：

Year:  1952        PMID： 12989297

Source DB:  PubMed          Journal:  Fortschr Geb Rontgenstr


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  4 in total

1.  A novel heterozygous deletion in the EVC2 gene causes Weyers acrofacial dysostosis.

Authors:  Xiaoqian Ye; Guangtai Song; Mingwen Fan; Lisong Shi; Ethylin Wang Jabs; Shangzhi Huang; Ruiqiang Guo; Zhuan Bian
Journal:  Hum Genet       Date:  2006-01-11       Impact factor: 4.132

2.  Autosomal dominant postaxial polydactyly, nail dystrophy, and dental abnormalities map to chromosome 4p16, in the region containing the Ellis-van Creveld syndrome locus.

Authors:  T D Howard; A E Guttmacher; W McKinnon; M Sharma; V A McKusick; E W Jabs
Journal:  Am J Hum Genet       Date:  1997-12       Impact factor: 11.025

3.  Ellis Van Creveld2 is Required for Postnatal Craniofacial Bone Development.

Authors:  Mohammed K Badri; Honghao Zhang; Yoshio Ohyama; Sundharamani Venkitapathi; Nobuhiro Kamiya; Haruko Takeda; Manas Ray; Greg Scott; Takehito Tsuji; Tetsuo Kunieda; Yuji Mishina; Yoshiyuki Mochida
Journal:  Anat Rec (Hoboken)       Date:  2016-05-02       Impact factor: 2.064

4.  EFCAB7 and IQCE regulate hedgehog signaling by tethering the EVC-EVC2 complex to the base of primary cilia.

Authors:  Ganesh V Pusapati; Casey E Hughes; Karolin V Dorn; Dapeng Zhang; Priscilla Sugianto; L Aravind; Rajat Rohatgi
Journal:  Dev Cell       Date:  2014-02-27       Impact factor: 12.270
  4 in total

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