FRINK Linked Data Fragments server

Matches in SemOpenAlex for { <https://semopenalex.org/work/W4367181454> ?p ?o ?g. }

• W4367181454 abstract "Up to 40% of rare disorders (RD) present facial dysmorphologies, and visual assessment is commonly used for clinical diagnosis. Quantitative approaches are more objective, but mostly rely on European descent populations, disregarding diverse population ancestry. Here, we assessed the facial phenotypes of Down (DS), Morquio (MS), Noonan (NS) and Neurofibromatosis type 1 (NF1) syndromes in a Latino-American population, recording the coordinates of 18 landmarks in 2D images from 79 controls and 51 patients. We quantified facial differences using Euclidean Distance Matrix Analysis, and assessed the diagnostic accuracy of Face2Gene, an automatic deep-learning algorithm. Individuals diagnosed with DS and MS presented severe phenotypes, with 58.2% and 65.4% of significantly different facial traits. The phenotype was milder in NS (47.7%) and non-significant in NF1 (11.4%). Each syndrome presented a characteristic dysmorphology pattern, supporting the diagnostic potential of facial biomarkers. However, population-specific traits were detected in the Colombian population. Diagnostic accuracy was 100% in DS, moderate in NS (66.7%) but lower in comparison to a European population (100%), and below 10% in MS and NF1. Moreover, admixed individuals showed lower facial gestalt similarities. Our results underscore that incorporating populations with Amerindian, African and European ancestry is crucial to improve diagnostic methods of rare disorders." @default.
• W4367181454 created "2023-04-28" @default.
• W4367181454 creator A5004371706 @default.
• W4367181454 creator A5012596270 @default.
• W4367181454 creator A5014147997 @default.
• W4367181454 creator A5015068781 @default.
• W4367181454 creator A5027251675 @default.
• W4367181454 creator A5030740506 @default.
• W4367181454 creator A5033052139 @default.
• W4367181454 creator A5039293393 @default.
• W4367181454 creator A5053861234 @default.
• W4367181454 creator A5082446832 @default.
• W4367181454 creator A5088663535 @default.
• W4367181454 date "2023-04-27" @default.
• W4367181454 modified "2023-09-25" @default.
• W4367181454 title "Population-specific facial traits and diagnosis accuracy of genetic and rare diseases in an admixed Colombian population" @default.
• W4367181454 cites W1884448358 @default.
• W4367181454 cites W1910322641 @default.
• W4367181454 cites W1975198502 @default.
• W4367181454 cites W1983965561 @default.
• W4367181454 cites W1999949020 @default.
• W4367181454 cites W2012498641 @default.
• W4367181454 cites W2041524245 @default.
• W4367181454 cites W2052714872 @default.
• W4367181454 cites W2052873380 @default.
• W4367181454 cites W2058884235 @default.
• W4367181454 cites W2078737216 @default.
• W4367181454 cites W2079713870 @default.
• W4367181454 cites W2082980172 @default.
• W4367181454 cites W2086452908 @default.
• W4367181454 cites W2099518265 @default.
• W4367181454 cites W2101307264 @default.
• W4367181454 cites W2108735421 @default.
• W4367181454 cites W2110216966 @default.
• W4367181454 cites W2112602049 @default.
• W4367181454 cites W2113771280 @default.
• W4367181454 cites W2120609533 @default.
• W4367181454 cites W2125708874 @default.
• W4367181454 cites W2128816834 @default.
• W4367181454 cites W2131384122 @default.
• W4367181454 cites W2134622293 @default.
• W4367181454 cites W2137303374 @default.
• W4367181454 cites W2139880862 @default.
• W4367181454 cites W2139955521 @default.
• W4367181454 cites W2149209915 @default.
• W4367181454 cites W2151921204 @default.
• W4367181454 cites W2166408662 @default.
• W4367181454 cites W2170013888 @default.
• W4367181454 cites W2170973554 @default.
• W4367181454 cites W2291551064 @default.
• W4367181454 cites W2395441448 @default.
• W4367181454 cites W2552868570 @default.
• W4367181454 cites W2564000158 @default.
• W4367181454 cites W2594006518 @default.
• W4367181454 cites W2599694922 @default.
• W4367181454 cites W2606719385 @default.
• W4367181454 cites W2740863414 @default.
• W4367181454 cites W2751161240 @default.
• W4367181454 cites W2753078680 @default.
• W4367181454 cites W2765796062 @default.
• W4367181454 cites W2887142060 @default.
• W4367181454 cites W2888026199 @default.
• W4367181454 cites W2901332105 @default.
• W4367181454 cites W2905441841 @default.
• W4367181454 cites W2909286381 @default.
• W4367181454 cites W2950662663 @default.
• W4367181454 cites W2973267506 @default.
• W4367181454 cites W2990954116 @default.
• W4367181454 cites W2995626287 @default.
• W4367181454 cites W3007101482 @default.
• W4367181454 cites W3010910506 @default.
• W4367181454 cites W3029892634 @default.
• W4367181454 cites W3033434602 @default.
• W4367181454 cites W3042627447 @default.
• W4367181454 cites W3044099300 @default.
• W4367181454 cites W3044991687 @default.
• W4367181454 cites W3104506719 @default.
• W4367181454 cites W3110864707 @default.
• W4367181454 cites W3130908611 @default.
• W4367181454 cites W3143064509 @default.
• W4367181454 cites W3169143748 @default.
• W4367181454 cites W3192552850 @default.
• W4367181454 cites W3200800589 @default.
• W4367181454 cites W3213978092 @default.
• W4367181454 cites W4211105116 @default.
• W4367181454 cites W4225773457 @default.
• W4367181454 cites W4250799407 @default.
• W4367181454 cites W4282569676 @default.
• W4367181454 cites W4289517402 @default.
• W4367181454 doi "https://doi.org/10.1038/s41598-023-33374-x" @default.
• W4367181454 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/37106005" @default.
• W4367181454 hasPublicationYear "2023" @default.
• W4367181454 type Work @default.
• W4367181454 citedByCount "0" @default.
• W4367181454 crossrefType "journal-article" @default.
• W4367181454 hasAuthorship W4367181454A5004371706 @default.
• W4367181454 hasAuthorship W4367181454A5012596270 @default.
• W4367181454 hasAuthorship W4367181454A5014147997 @default.
• W4367181454 hasAuthorship W4367181454A5015068781 @default.
• W4367181454 hasAuthorship W4367181454A5027251675 @default.

• next