Large homozygous RAB3GAP1 gene microdeletion causes Warburg Micro Syndrome 1

Warburg micro syndrome (WARBM) is a genetic heterogeneous disease characterized by microcephaly, intellectual disability, brain, ocular, and endocrine anomalies. WARBM1-4 can be caused by biallelic mutations of the RAB3GAP1 (RAB3 GTPase-activating protein 1), RAB3GAP2, RAB18 (RAS-associated protein...

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Détails bibliographiques
Publié dans:Orphanet J Rare Dis
Auteurs principaux: Picker-Minh, Sylvie, Busche, Andreas, Hartmann, Britta, Spors, Birgit, Klopocki, Eva, Hübner, Christoph, Horn, Denise, Kaindl, Angela M
Format: Artigo
Langue:Inglês
Publié: BioMed Central 2014
Sujets:
Letter to the Editor
Accès en ligne:https://ncbi.nlm.nih.gov/pmc/articles/PMC4224754/
https://ncbi.nlm.nih.gov/pubmed/25332050
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s13023-014-0113-9
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