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...

पूर्ण विवरण

में बचाया:
ग्रंथसूची विवरण
में प्रकाशित:Orphanet J Rare Dis
मुख्य लेखकों: Picker-Minh, Sylvie, Busche, Andreas, Hartmann, Britta, Spors, Birgit, Klopocki, Eva, Hübner, Christoph, Horn, Denise, Kaindl, Angela M
स्वरूप: Artigo
भाषा:Inglês
प्रकाशित: BioMed Central 2014
विषय:
Letter to the Editor
ऑनलाइन पहुंच: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
टैग : टैग जोड़ें
कोई टैग नहीं, इस रिकॉर्ड को टैग करने वाले पहले व्यक्ति बनें!

समान संसाधन