Literature DB >> 3742856

Craniofrontonasal dysplasia: clinical and genetic analysis.

C M Sax, D B Flannery.   

Abstract

We have identified a case of craniofrontonasal dysplasia which demonstrates the potential lethality of this gene. Genetic analysis of this pedigree and nine others reveals that craniofrontonasal dysplasia does not follow a Mendelian mode of inheritance and may be a human mutation analogous to the T-locus of mice.

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Year:  1986        PMID： 3742856     DOI： 10.1111/j.1399-0004.1986.tb00552.x

Source DB:  PubMed          Journal:  Clin Genet        ISSN： 0009-9163            Impact factor:   4.438


  4 in total

Review 1.  Frontonasal Dysplasia: Towards an Understanding of Molecular and Developmental Aetiology.

Authors:  Peter G Farlie; Naomi L Baker; Patrick Yap; Tiong Y Tan
Journal:  Mol Syndromol       Date:  2016-10-29

2.  Craniofrontonasal dysplasia.

Authors:  I D Young
Journal:  J Med Genet       Date:  1987-04       Impact factor: 6.318

3.  Craniofrontonasal dysplasia: hypertelorism correction in late presenting patients.

Authors:  Cassio Eduardo Raposo-Amaral; Gabriel Resende; Rafael Denadai; Enrico Ghizoni; Cesar Augusto Raposo-Amaral
Journal:  Childs Nerv Syst       Date:  2021-04-16       Impact factor: 1.475

4.  Mutations of ephrin-B1 (EFNB1), a marker of tissue boundary formation, cause craniofrontonasal syndrome.

Authors:  Stephen R F Twigg; Rui Kan; Christian Babbs; Elena G Bochukova; Stephen P Robertson; Steven A Wall; Gillian M Morriss-Kay; Andrew O M Wilkie
Journal:  Proc Natl Acad Sci U S A       Date:  2004-05-27       Impact factor: 11.205
  4 in total

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