Literature DB >> 8775424

Craniofrontonasal dysplasia: more severe expression in the mother than in her son.

K Devriendt1, C Van Mol, J P Fryns.   

Abstract

Craniofrontonasal dysplasia: more severe expression in the mother than in her son: We report a family with craniofrontonasal dysplasia in a mother and her son. In addition to the typical clinical features, the present case report further illustrates two sofar unexplained observations in craniofrontonasal dysplasia: a more severe clinical expression in females and an increased incidence of miscarriages.

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Mesh：

Year:  1995        PMID： 8775424

Source DB:  PubMed          Journal:  Genet Couns        ISSN： 1015-8146


  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.  Four novel mutations in EFNB1 in Indian patients with craniofrontonasal syndrome.

Authors:  Antonia Howaldt; Sheela Nampoothiri; Dhanya Yesodharan; Suhas Udayakumaran; Pramod Subash; Uwe Kornak
Journal:  J Hum Genet       Date:  2019-07-08       Impact factor: 3.172

3.  Mutations of the ephrin-B1 gene cause craniofrontonasal syndrome.

Authors:  Ilse Wieland; Sibylle Jakubiczka; Petra Muschke; Monika Cohen; Hannelore Thiele; Klaus L Gerlach; Ralf H Adams; Peter Wieacker
Journal:  Am J Hum Genet       Date:  2004-04-29       Impact factor: 11.025

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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