Two novel GJA1 variants in oculodentodigital dysplasia-Reference-Cited by-同舟云学术

Two novel GJA1 variants in oculodentodigital dysplasia

Published:2019-07-25 Issue:9 Volume:7 Page:
ISSN:2324-9269
Container-title:Molecular Genetics & Genomic Medicine
language:en
Short-container-title:Mol Genet Genomic Med

Author:

Pace Nikolai P.¹^ORCID,Benoit Valerie²,Agius David³,Grima Maria Angela⁴,Parascandalo Raymond⁵,Hilbert Pascale²,Borg Isabella¹⁶⁷

Affiliation:

1. Centre for Molecular Medicine and Biobanking University of Malta Msida Malta

2. Département de Biologie Moléculaire Institut de Pathologie et de Génétique ASBL Gosselies Belgium

3. Department of Ophthalmology Mater Dei Hospital Msida Malta

4. Department of Medicine Mater Dei Hospital Msida Malta

5. Department of Pediatrics Mater Dei Hospital Msida Malta

6. Department of Pathology, Faculty of Medicine and Surgery University of Malta Msida Malta

7. Medical Genetics Unit, Department of Pathology Mater Dei Hospital Msida Malta

Publisher

Wiley

Subject

Genetics (clinical),Genetics,Molecular Biology

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/mgg3.882

Reference30 articles.

1. Gap junctions in inherited human disorders of the central nervous system

2. Amino Acid Properties and Consequences of Substitutions

3. A novel mutation inGJA1causing oculodentodigital syndrome and primary lymphoedema in a three generation family

4. Oculodentodigital dysplasia with a novel mutation in GJA1 diagnosed by targeted gene panel sequencing: A case report and literature review;Choi J.;Annals of Clinical and Laboratory Science,2018

5. Neurological manifestations of oculodentodigital dysplasia: a Cx43 channelopathy of the central nervous system?

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