Clinical characteristics and survival of Chinese patients diagnosed with pulmonary arterial hypertension who carry BMPR2 or EIF2KAK4 variants
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DOI: 10.1186/s12890-020-01179-7
Abstract: Variants in the gene encoding bone morphogenetic protein receptor type II (BMPR2) are the most common genetic cause of pulmonary arterial hypertension (PAH), whereas biallelic variants in the eukaryotic translation initiation factor 2 alpha kinase… read more here.
Keywords: bmpr2 variants; patients bmpr2; eif2ak4 variants; clinical characteristics ... See more keywords
BMPR2 Variants Underlie Nonsyndromic Oligodontia
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DOI: 10.3390/ijms24021648
Abstract: Oligodontia manifests as a congenital reduction in the number of permanent teeth. Despite the major efforts that have been made, the genetic etiology of oligodontia remains largely unknown. Bone morphogenetic protein receptor type 2 (BMPR2)… read more here.
Keywords: variants underlie; nonsyndromic oligodontia; underlie nonsyndromic; bmpr2 variants ... See more keywords