The expanding phenotype of COL4A1 and COL4A2 mutations: clinical data on 13 newly identified families and a review of the literature.

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🔗 View Article (PMID 25719457)

Published in Genet Med on February 26, 2015

Authors

Marije E C Meuwissen¹^,2, Dicky J J Halley¹, Liesbeth S Smit³, Maarten H Lequin⁴, Jan M Cobben⁵, René de Coo³, Jeske van Harssel⁶, Suzanne Sallevelt⁷, Gwendolyn Woldringh⁸, Marjo S van der Knaap⁹, Linda S de Vries¹⁰, Grazia M S Mancini¹

Author Affiliations

1: Department of Clinical Genetics, Erasmus University Medical Center, Rotterdam, The Netherlands.
2: Department of Medical Genetics, University Hospital Antwerp, Antwerp, Belgium.
3: Department of Neurology, Division of Pediatric Neurology, Child Neurology, Erasmus University Medical Center, Rotterdam, The Netherlands.
4: Department of Radiology, Erasmus University Medical Center, Rotterdam, The Netherlands.
5: Department of Pediatric Genetics, Academic Medical Center, Amsterdam, The Netherlands.
6: Department of Clinical Genetics, University Medical Center, University of Utrecht, Utrecht, The Netherlands.
7: Department of Clinical Genetics, Maastricht University Medical Center, Maastricht, The Netherlands.
8: Department of Clinical Genetics, University Medical Center Nijmegen, Nijmegen, The Netherlands.
9: Department of Child Neurology, VU Medical Center, Amsterdam, The Netherlands.
10: Department of Neonatology, University Medical Center, University of Utrecht, Utrecht, The Netherlands.

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