By

Linda Sorg

22
Aug

CDO Summer 2019 Newsletter

CDO Summer 2019 Newsletter – Rare Chromosome Disorder Support Network. CDO was recently contacted by the Chan Zuckerberg Initiative which among other programs has created the Rare As One Project. This project partners with the rare disease community to lift up patient-led research and provide support in the form of...
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15
Jul

22q11.2 duplication, bladder exstrophy and the LZTR1 gene

22q11.2 duplication, bladder exstrophy and the LZTR1 gene Bladder exstrophy is a rare birth defect resulting in the malformation of the bladder and urethra. It is part of the bladder exstrophy-epispadias complex (BEEC). In several previously published reports children with bladder exstrophy were found to have duplications of the 22q11.2...
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08
Jul

Looking for the hidden mutation: Bannayan–Riley–Ruvalcaba syndrome 10q23 microdeletions

Looking for the hidden mutation: Bannayan–Riley–Ruvalcaba syndrome caused by constitutional and mosaic 10q23 microdeletions involving PTEN and BMPR1A Bannayan–Riley–Ruvalcaba syndrome (BRRS) is a genetic condition characterized by large head size, hamartomas, intestinal polyposis, and genital pigmentation. Intellectual disability is found is around half of BRRS patients as well. This disorder...
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