DOORS syndrome: Phenotype, genotype and comparison with Coffin-Siris syndrome
Published 2014 View Full Article
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Title
DOORS syndrome: Phenotype, genotype and comparison with Coffin-Siris syndrome
Authors
Keywords
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Journal
AMERICAN JOURNAL OF MEDICAL GENETICS PART C-SEMINARS IN MEDICAL GENETICS
Volume 166, Issue 3, Pages 327-332
Publisher
Wiley
Online
2014-08-29
DOI
10.1002/ajmg.c.31412
References
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- (2013) Marco Castori et al. European Journal of Medical Genetics
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- (2013) Gijs W.E. Santen et al. HUMAN MUTATION
- TBC1D24truncating mutation resulting in severe neurodegeneration
- (2013) Ayse Guven et al. JOURNAL OF MEDICAL GENETICS
- The genetic basis of DOORS syndrome: an exome-sequencing study
- (2013) Philippe M Campeau et al. LANCET NEUROLOGY
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- (2012) Jeroen K J Van Houdt et al. NATURE GENETICS
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- A Focal Epilepsy and Intellectual Disability Syndrome Is Due to a Mutation in TBC1D24
- (2010) Mark A. Corbett et al. AMERICAN JOURNAL OF HUMAN GENETICS
- TBC1D24, an ARF6-Interacting Protein, Is Mutated in Familial Infantile Myoclonic Epilepsy
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- Temple-Baraitser syndrome: A rare and possibly unrecognized condition
- (2010) Adeline Jacquinet et al. AMERICAN JOURNAL OF MEDICAL GENETICS PART A
- Digito-reno-cerebral syndrome: confirmation of Eronen syndrome
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- Nicolaides-Baraitser syndrome: Delineation of the phenotype
- (2009) Sérgio B. Sousa et al. AMERICAN JOURNAL OF MEDICAL GENETICS PART A
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