Matches in SemOpenAlex for { <https://semopenalex.org/work/W3120801419> ?p ?o ?g. }
- W3120801419 abstract "Abstract Marfan syndrome and related disorders are a group of heritable connective tissue disorders and share many clinical features that involve cardiovascular, skeletal, craniofacial, ocular, and cutaneous abnormalities. The majority of affected individuals have aortopathies associated with early mortality and morbidity. Implementation of targeted gene panel next-generation sequencing in these individuals is a powerful tool to obtain a genetic diagnosis. Here, we report on clinical and genetic spectrum of 53 families from India with a total of 83 patients who had a clinical diagnosis suggestive of Marfan syndrome or related disorders. We obtained a molecular diagnosis in 45/53 (85%) index patients, in which 36/53 (68%) had rare variants in FBN1 (Marfan syndrome; 63 patients in total), seven (13.3%) in TGFBR1 / TGFBR2 (Loeys–Dietz syndrome; nine patients in total) and two patients (3.7%) in SKI (Shprintzen–Goldberg syndrome). 21 of 41 rare variants (51.2%) were novel. We did not detect a disease-associated variant in 8 (15%) index patients, and none of them met the Ghent Marfan diagnostic criteria. We found the homozygous FBN1 variant p.(Arg954His) in a boy with typical features of Marfan syndrome. Our study is the first reporting on the spectrum of variants in FBN1, TGFBR1, TGFBR2 , and SKI in Indian individuals." @default.
- W3120801419 created "2021-01-18" @default.
- W3120801419 creator A5002487025 @default.
- W3120801419 creator A5003646390 @default.
- W3120801419 creator A5014885130 @default.
- W3120801419 creator A5022967635 @default.
- W3120801419 creator A5023616161 @default.
- W3120801419 creator A5023849845 @default.
- W3120801419 creator A5024007387 @default.
- W3120801419 creator A5026435605 @default.
- W3120801419 creator A5028839644 @default.
- W3120801419 creator A5032114574 @default.
- W3120801419 creator A5033948676 @default.
- W3120801419 creator A5035671839 @default.
- W3120801419 creator A5042051309 @default.
- W3120801419 creator A5046962940 @default.
- W3120801419 creator A5049748397 @default.
- W3120801419 creator A5062067357 @default.
- W3120801419 creator A5066644337 @default.
- W3120801419 creator A5069467941 @default.
- W3120801419 creator A5074067716 @default.
- W3120801419 creator A5075037256 @default.
- W3120801419 date "2021-01-12" @default.
- W3120801419 modified "2023-10-02" @default.
- W3120801419 title "Clinically relevant variants in a large cohort of Indian patients with Marfan syndrome and related disorders identified by next-generation sequencing" @default.
- W3120801419 cites W1493576689 @default.
- W3120801419 cites W1533101791 @default.
- W3120801419 cites W1762381998 @default.
- W3120801419 cites W1816048415 @default.
- W3120801419 cites W1957028570 @default.
- W3120801419 cites W1981285898 @default.
- W3120801419 cites W1984068087 @default.
- W3120801419 cites W1987891430 @default.
- W3120801419 cites W2002491526 @default.
- W3120801419 cites W2010595044 @default.
- W3120801419 cites W2014181394 @default.
- W3120801419 cites W2024183174 @default.
- W3120801419 cites W2025073474 @default.
- W3120801419 cites W2030123615 @default.
- W3120801419 cites W2045791858 @default.
- W3120801419 cites W2051978340 @default.
- W3120801419 cites W2053146170 @default.
- W3120801419 cites W2054781132 @default.
- W3120801419 cites W2072144423 @default.
- W3120801419 cites W2076744937 @default.
- W3120801419 cites W2077773949 @default.
- W3120801419 cites W2079955656 @default.
- W3120801419 cites W2081737308 @default.
- W3120801419 cites W2090027397 @default.
- W3120801419 cites W2094717806 @default.
- W3120801419 cites W2101844137 @default.
- W3120801419 cites W2103441770 @default.
- W3120801419 cites W2114232003 @default.
- W3120801419 cites W2115648110 @default.
- W3120801419 cites W2119180969 @default.
- W3120801419 cites W2124672306 @default.
- W3120801419 cites W2125633197 @default.
- W3120801419 cites W2130816672 @default.
- W3120801419 cites W2131001755 @default.
- W3120801419 cites W2132123037 @default.
- W3120801419 cites W2135625473 @default.
- W3120801419 cites W2144885757 @default.
- W3120801419 cites W2146272590 @default.
- W3120801419 cites W2150427640 @default.
- W3120801419 cites W2160995259 @default.
- W3120801419 cites W2225287204 @default.
- W3120801419 cites W2256016639 @default.
- W3120801419 cites W2346211860 @default.
- W3120801419 cites W2514123856 @default.
- W3120801419 cites W2521967673 @default.
- W3120801419 cites W2535426958 @default.
- W3120801419 cites W2572924087 @default.
- W3120801419 cites W2747032807 @default.
- W3120801419 cites W2770924513 @default.
- W3120801419 cites W2792759580 @default.
- W3120801419 cites W2794040920 @default.
- W3120801419 cites W2808350760 @default.
- W3120801419 cites W2911285384 @default.
- W3120801419 cites W2949857618 @default.
- W3120801419 cites W2949860192 @default.
- W3120801419 cites W2989502615 @default.
- W3120801419 cites W2989936941 @default.
- W3120801419 cites W2990160150 @default.
- W3120801419 cites W2994935023 @default.
- W3120801419 cites W3014756739 @default.
- W3120801419 cites W3029661147 @default.
- W3120801419 cites W4247292500 @default.
- W3120801419 cites W880584867 @default.
- W3120801419 doi "https://doi.org/10.1038/s41598-020-80755-7" @default.
- W3120801419 hasPubMedCentralId "https://www.ncbi.nlm.nih.gov/pmc/articles/7804850" @default.
- W3120801419 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/33436942" @default.
- W3120801419 hasPublicationYear "2021" @default.
- W3120801419 type Work @default.
- W3120801419 sameAs 3120801419 @default.
- W3120801419 citedByCount "8" @default.
- W3120801419 countsByYear W31208014192022 @default.
- W3120801419 countsByYear W31208014192023 @default.
- W3120801419 crossrefType "journal-article" @default.
- W3120801419 hasAuthorship W3120801419A5002487025 @default.
- W3120801419 hasAuthorship W3120801419A5003646390 @default.