Gene‐specific facial dysmorphism in Axenfeld‐Rieger syndrome caused by FOXC1 and PITX2 variants-Reference-Cited by-同舟云学术

Gene‐specific facial dysmorphism in Axenfeld‐Rieger syndrome caused by FOXC1 and PITX2 variants

Published:2020-11-24 Issue:2 Volume:185 Page:434-439
ISSN:1552-4825
Container-title:American Journal of Medical Genetics Part A
language:en
Short-container-title:Am J Med Genet

Author:

Souzeau Emmanuelle¹^ORCID,Siggs Owen M.¹,Pasutto Francesca²^ORCID,Knight Lachlan S. W.¹,Perez‐Jurado Luis A.³⁴⁵,McGregor Lesley³,Le Blanc Shannon³,Barnett Christopher P.³,Liebelt Jan³,Craig Jamie E.¹

Affiliation:

1. Department of Ophthalmology Flinders University, Flinders Medical Centre Adelaide South Australia Australia

2. Institute of Human Genetics Friedrich‐Alexander‐Universität Erlangen‐Nürnberg Erlangen Germany

3. Paediatric and Reproductive Genetics Unit Women's and Children's Hospital Adelaide South Australia Australia

4. South Australia Health and Medical Research Institute The University of Adelaide Adelaide South Australia Australia

5. Genetics Unit, Universitat Pompeu Fabra Hospital del Mar Research Institute (IMIM) and CIBERER Barcelona Spain

Funder

Flinders Medical Centre Foundation

Hospital Research Foundation

National Health and Medical Research Council

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/ajmg.a.61982

Reference24 articles.

1. Axenfeld-Rieger syndrome in the age of molecular genetics

2. Expanding the spectrum of FOXC1 and PITX2 mutations and copy number changes in patients with anterior segment malformations;D'Haene B.;Investigative Ophthalmology & Visual Science,2011

3. The Axenfeld syndrome and the Rieger syndrome.

4. Homeobox transcription factor Pitx2: The rise of an asymmetry gene in cardiogenesis and arrhythmogenesis

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