Delineation of the Clinical, Molecular and Cellular Aspects of Novel JAM 3 Mutations Underlying the Autosomal Recessive Hemorrhagic Destruction of the Brain, Subependymal Calcification, and Congenital Cataracts-Reference-Cited by-同舟云学术

Delineation of the Clinical, Molecular and Cellular Aspects of Novel JAM 3 Mutations Underlying the Autosomal Recessive Hemorrhagic Destruction of the Brain, Subependymal Calcification, and Congenital Cataracts

Published:2013-03 Issue:3 Volume:34 Page:498-505
ISSN:1059-7794
Container-title:Human Mutation
language:en
Short-container-title:Human Mutation

Author:

Akawi Nadia A.¹,Canpolat Fuat E.²,White Susan M.³⁴,Quilis‐Esquerra Josep⁵,Morales Sanchez Martin⁵,Gamundi Maria José⁵,Mochida Ganeshwaran H.⁶,Walsh Christopher A.⁶,Ali Bassam R.¹,Al‐Gazali Lihadh⁷

Affiliation:

1. Department of Pathology, Faculty of Medicine and Health Sciences United Arab Emirates University Al‐Ain United Arab Emirates

2. Zekai Tahir Burak Maternity Hospital, Neonatal Intensive Care Unit Ankara Turkey

3. Victorian Clinical Genetics Service, Murdoch Childrens Research Institute Royal Children's Hospital Australia

4. Department of Paediatrics University of Melbourne Australia

5. Molecular Genetics Unit. Consorci Sanitari de Terrassa Terrassa Barcelona Spain

6. Division of Genetics, Manton Center for Orphan Disease Research and Howard Hughes Medical Institute, Department of Medicine Boston Children's Hospital Boston Massachusetts

7. Department of Paediatrics, Faculty of Medicine and Health Sciences United Arab Emirates University Al‐Ain United Arab Emirates

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/humu.22263

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