FRINK Linked Data Fragments server

Matches in SemOpenAlex for { <https://semopenalex.org/work/W3035522350> ?p ?o ?g. }

• W3035522350 abstract "Abstract Background Mowat–Wilson syndrome (MWS; OMIM #235730) is a genetic condition caused by heterozygous mutations or deletions of the ZEB2 gene. It is characterized by moderate-severe intellectual disability, epilepsy, Hirschsprung disease and multiple organ malformations of which congenital heart defects and urogenital anomalies are the most frequent ones. To date, a clear description of the physical development of MWS patients does not exist. The aim of this study is to provide up-to-date growth charts specific for infants and children with MWS. Charts for males and females aged from 0 to 16 years were generated using a total of 2865 measurements from 99 MWS patients of different ancestries. All data were collected through extensive collaborations with the Italian MWS association (AIMW) and the MWS Foundation. The GAMLSS package for the R statistical computing software was used to model the growth charts. Height, weight, body mass index (BMI) and head circumference were compared to those from standard international growth charts for healthy children. Results In newborns, weight and length were distributed as in the general population, while head circumference was slightly smaller, with an average below the 30th centile. Up to the age of 7 years, weight and height distribution was shifted to slightly lower values than in the general population; after that, the difference increased further, with 50% of the affected children below the 5th centile of the general population. BMI distribution was similar to that of non-affected children until the age of 7 years, at which point values in MWS children increased with a less steep slope, particularly in males. Microcephaly was sometimes present at birth, but in most cases it developed gradually during infancy; many children had a small head circumference, between the 3rd and the 10th centile, rather than being truly microcephalic (at least 2 SD below the mean). Most patients were of slender build. Conclusions These charts contribute to the understanding of the natural history of MWS and should assist pediatricians and other caregivers in providing optimal care to MWS individuals who show problems related to physical growth. This is the first study on growth in patients with MWS." @default.
• W3035522350 created "2020-06-19" @default.
• W3035522350 creator A5000462195 @default.
• W3035522350 creator A5004560108 @default.
• W3035522350 creator A5011068319 @default.
• W3035522350 creator A5013035289 @default.
• W3035522350 creator A5013917549 @default.
• W3035522350 creator A5014630260 @default.
• W3035522350 creator A5014808888 @default.
• W3035522350 creator A5015060725 @default.
• W3035522350 creator A5017872494 @default.
• W3035522350 creator A5019876105 @default.
• W3035522350 creator A5019913595 @default.
• W3035522350 creator A5021611638 @default.
• W3035522350 creator A5021715627 @default.
• W3035522350 creator A5025524692 @default.
• W3035522350 creator A5030811663 @default.
• W3035522350 creator A5034206013 @default.
• W3035522350 creator A5035694646 @default.
• W3035522350 creator A5036096861 @default.
• W3035522350 creator A5037180800 @default.
• W3035522350 creator A5037680820 @default.
• W3035522350 creator A5038969949 @default.
• W3035522350 creator A5040660723 @default.
• W3035522350 creator A5045367285 @default.
• W3035522350 creator A5046205790 @default.
• W3035522350 creator A5046334396 @default.
• W3035522350 creator A5048357112 @default.
• W3035522350 creator A5048731165 @default.
• W3035522350 creator A5054224038 @default.
• W3035522350 creator A5055920819 @default.
• W3035522350 creator A5056744774 @default.
• W3035522350 creator A5057115215 @default.
• W3035522350 creator A5060809278 @default.
• W3035522350 creator A5066178637 @default.
• W3035522350 creator A5066493415 @default.
• W3035522350 creator A5068694906 @default.
• W3035522350 creator A5068935091 @default.
• W3035522350 creator A5069812761 @default.
• W3035522350 creator A5070558354 @default.
• W3035522350 creator A5070978913 @default.
• W3035522350 creator A5071894755 @default.
• W3035522350 creator A5073290454 @default.
• W3035522350 creator A5073627122 @default.
• W3035522350 creator A5074893779 @default.
• W3035522350 creator A5075458842 @default.
• W3035522350 creator A5075683382 @default.
• W3035522350 creator A5076413784 @default.
• W3035522350 creator A5082021007 @default.
• W3035522350 creator A5082362785 @default.
• W3035522350 creator A5083660638 @default.
• W3035522350 creator A5084445389 @default.
• W3035522350 creator A5085690040 @default.
• W3035522350 creator A5086601140 @default.
• W3035522350 creator A5060872636 @default.
• W3035522350 date "2020-06-15" @default.
• W3035522350 modified "2023-10-18" @default.
• W3035522350 title "Mowat-Wilson syndrome: growth charts" @default.
• W3035522350 cites W1946352393 @default.
• W3035522350 cites W1967340679 @default.
• W3035522350 cites W1972790519 @default.
• W3035522350 cites W1973443398 @default.
• W3035522350 cites W1980799665 @default.
• W3035522350 cites W1981369534 @default.
• W3035522350 cites W1992944938 @default.
• W3035522350 cites W1993269659 @default.
• W3035522350 cites W1995210951 @default.
• W3035522350 cites W2007684928 @default.
• W3035522350 cites W2007794984 @default.
• W3035522350 cites W2022969866 @default.
• W3035522350 cites W2030148028 @default.
• W3035522350 cites W2033574220 @default.
• W3035522350 cites W2040418312 @default.
• W3035522350 cites W2060314412 @default.
• W3035522350 cites W2070315497 @default.
• W3035522350 cites W2080857290 @default.
• W3035522350 cites W2088650860 @default.
• W3035522350 cites W2096807605 @default.
• W3035522350 cites W2097389735 @default.
• W3035522350 cites W2136326182 @default.
• W3035522350 cites W2146785579 @default.
• W3035522350 cites W2147271987 @default.
• W3035522350 cites W2160681974 @default.
• W3035522350 cites W2164676040 @default.
• W3035522350 cites W2223832541 @default.
• W3035522350 cites W2781520978 @default.
• W3035522350 cites W2805277502 @default.
• W3035522350 cites W2943079115 @default.
• W3035522350 doi "https://doi.org/10.1186/s13023-020-01418-4" @default.
• W3035522350 hasPubMedCentralId "https://www.ncbi.nlm.nih.gov/pmc/articles/7294656" @default.
• W3035522350 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/32539836" @default.
• W3035522350 hasPublicationYear "2020" @default.
• W3035522350 type Work @default.
• W3035522350 sameAs 3035522350 @default.
• W3035522350 citedByCount "9" @default.
• W3035522350 countsByYear W30355223502020 @default.
• W3035522350 countsByYear W30355223502021 @default.
• W3035522350 countsByYear W30355223502022 @default.
• W3035522350 countsByYear W30355223502023 @default.
• W3035522350 crossrefType "journal-article" @default.

• next