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Article summary:
1. This article discusses the molecular basis of brachyphalangy, polydactyly and tibial aplasia/hypoplasia syndrome (BPTAS), an extremely rare complex malformation syndrome.
2. Five individuals with BPTAS were diagnosed during the study, all exhibiting distinct skeletal phenotypes including short and malformed lower limbs, preaxial polysyndactyly and contractures of large joints.
3. De novo frameshifts in HMGB1 were identified as the cause of BPTAS, which was confirmed by Sanger sequencing and trio exome sequencing.
Article analysis:
The article is generally reliable and trustworthy in its reporting of the findings related to the molecular basis of brachyphalangy, polydactyly and tibial aplasia/hypoplasia syndrome (BPTAS). The authors provide detailed clinical information about the five individuals diagnosed with BPTAS during their study, as well as family histories for each individual. Furthermore, they present evidence for their findings through Sanger sequencing and trio exome sequencing which confirms the presence of de novo frameshifts in HMGB1 as the cause of BPTAS.
The article does not appear to be biased or one-sided in its reporting; it presents both sides equally by providing detailed information about both the clinical features associated with BPTAS as well as evidence for its molecular basis. Additionally, there are no unsupported claims or missing points of consideration; all claims are supported by evidence from Sanger sequencing and trio exome sequencing. There is also no promotional content or partiality present in this article; it is purely focused on presenting scientific findings related to BPTAS. Finally, possible risks associated with this research are noted throughout the article; for example, it mentions that mutations in transcriptional regulatory proteins can lead to complex diseases without a clear underlying genetic component.