Gene-specific facial dysmorphism in Axenfeld-Rieger syndrome caused by FOXC1 and PITX2 variants.
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| Title: | Gene-specific facial dysmorphism in Axenfeld-Rieger syndrome caused by FOXC1 and PITX2 variants. |
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| Authors: | Souzeau E; Department of Ophthalmology, Flinders University, Flinders Medical Centre, Adelaide, South Australia, Australia., Siggs OM; Department of Ophthalmology, Flinders University, Flinders Medical Centre, Adelaide, South Australia, Australia., Pasutto F; Institute of Human Genetics, Friedrich-Alexander-Universität Erlangen-Nürnberg, Erlangen, Germany., Knight LSW; Department of Ophthalmology, Flinders University, Flinders Medical Centre, Adelaide, South Australia, Australia., Perez-Jurado LA; Paediatric and Reproductive Genetics Unit, Women's and Children's Hospital, Adelaide, South Australia, Australia.; South Australia Health and Medical Research Institute, The University of Adelaide, Adelaide, South Australia, Australia.; Genetics Unit, Universitat Pompeu Fabra, Hospital del Mar Research Institute (IMIM) and CIBERER, Barcelona, Spain., McGregor L; Paediatric and Reproductive Genetics Unit, Women's and Children's Hospital, Adelaide, South Australia, Australia., Le Blanc S; Paediatric and Reproductive Genetics Unit, Women's and Children's Hospital, Adelaide, South Australia, Australia., Barnett CP; Paediatric and Reproductive Genetics Unit, Women's and Children's Hospital, Adelaide, South Australia, Australia., Liebelt J; Paediatric and Reproductive Genetics Unit, Women's and Children's Hospital, Adelaide, South Australia, Australia., Craig JE; Department of Ophthalmology, Flinders University, Flinders Medical Centre, Adelaide, South Australia, Australia. |
| Source: | American journal of medical genetics. Part A [Am J Med Genet A] 2021 Feb; Vol. 185 (2), pp. 434-439. Date of Electronic Publication: 2020 Nov 24. |
| Publication Type: | Journal Article; Research Support, Non-U.S. Gov't |
| Journal Info: | Publisher: Wiley-Blackwell Country of Publication: United States NLM ID: 101235741 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1552-4833 (Electronic) Linking ISSN: 15524825 NLM ISO Abbreviation: Am J Med Genet A Subsets: MEDLINE |
| Database: | MEDLINE Ultimate |
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