Rare diseases deeply affect not only the children who experience them, but also their healthy brothers and sisters, as their parents can attest. Two entries in November’s “Disorder: The Rare Disease Film Festival” will focus on what siblings go through, according to the San Francisco festival’s co-founder,…
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Certain variations in the DNA sequence of the vitamin D receptor (VDR) gene increase the risk for obesity in patients with type 2 diabetes, a South Korean study reports. The study, “The Associations Between Vitamin D Receptor BsmI and ApaI Polymorphisms and Obesity in Korean Patients with…
A case study of a baby with Bardet-Biedl syndrome (BBS) highlights the unusual respiratory features that result from inheriting two mutant copies of the BBS10 gene. The report, “Bardet-Biedl syndrome presenting with laryngeal web…
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