Matches in SemOpenAlex for { <https://semopenalex.org/work/W4313404788> ?p ?o ?g. }
Showing items 1 to 94 of
94
with 100 items per page.
- W4313404788 endingPage "104" @default.
- W4313404788 startingPage "98" @default.
- W4313404788 abstract "Trichorhinophalangeal syndrome is a rare autosomal dominant disorder characterized by distinctive craniofacial and skeletal abnormalities. This study aimed to delineate the trichorhinophalangeal syndrome phenotype and to compare the clinical and molecular findings between trichorhinophalangeal syndrome types I and II.A total of 22 trichorhinophalangeal syndrome patients aged 0.9-45 years from 17 families were enrolled. Nineteen patients were diagnosed with trichorhin ophalangeal syndrome I and 3 with trichorhinophalangeal syndrome II. Genetic analyses were made by TRPS1 sequencing and/or chromosomal microarray analyses.A novel frameshift variant (c.531_532del), a known missense variant, and whole-gene deletions were the pathogenic TRPS1 variants detected in trichorhinophalangeal syndrome I. Three trichorhinophalangeal syndrome II patients had large deletions with variable breakpoints involving the TRPS1-EXT1 interval. All patients had the typical craniofacial findings of trichorhinophalangeal syndrome such as a pear-shaped nose, long philtrum, and thin upper lip, as well as cone-shaped epiphyses. Sparse hair and eyebrows (20/22), short metacarpals and metatarsals (20/22), and small hands (19/22) were common. While craniofacial and limb abnormalities were similar in trichorhinophalangeal syndrome I and II, 3 of 19 trichorhinophal angeal syndrome I patients had mild, and 2 of 3 trichorhinophalangeal syndrome II patients had severe intellectual disability. Three trichorhinophalangeal syndrome II patients including the patient with the EXT1 deletion beginning from exon 2 had exostoses. In trichorhinophal angeal syndrome II, although microdeletion sizes and facial or skeletal features were not correlated, patients with larger deletions had severe intellectual disability.This study has expanded the existing knowledge on the phenotype-genotype spectrum in trichorhinophalangeal syndrome. We suggest including the EXT1 gene partially in the minimal critical region for trichorhinophalangeal syndrome II." @default.
- W4313404788 created "2023-01-06" @default.
- W4313404788 creator A5013275279 @default.
- W4313404788 creator A5020551860 @default.
- W4313404788 creator A5021442374 @default.
- W4313404788 creator A5024040332 @default.
- W4313404788 creator A5025509724 @default.
- W4313404788 creator A5038070981 @default.
- W4313404788 creator A5051177902 @default.
- W4313404788 creator A5089823774 @default.
- W4313404788 date "2023-01-02" @default.
- W4313404788 modified "2023-10-14" @default.
- W4313404788 title "The Clinical and Molecular Spectrum of Trichorhinophalangeal Syndrome Types I and II in a Turkish Cohort Involving 22 Patients" @default.
- W4313404788 cites W1972825709 @default.
- W4313404788 cites W1976877135 @default.
- W4313404788 cites W1992373519 @default.
- W4313404788 cites W1992500414 @default.
- W4313404788 cites W2016704577 @default.
- W4313404788 cites W2022212740 @default.
- W4313404788 cites W2039926129 @default.
- W4313404788 cites W2046800855 @default.
- W4313404788 cites W2051978340 @default.
- W4313404788 cites W2065535091 @default.
- W4313404788 cites W2072788472 @default.
- W4313404788 cites W2093643588 @default.
- W4313404788 cites W2490322279 @default.
- W4313404788 cites W2792226342 @default.
- W4313404788 cites W2885044037 @default.
- W4313404788 cites W2905297418 @default.
- W4313404788 cites W2943247109 @default.
- W4313404788 cites W2998205492 @default.
- W4313404788 cites W3012339221 @default.
- W4313404788 cites W4220805053 @default.
- W4313404788 cites W4224314183 @default.
- W4313404788 doi "https://doi.org/10.5152/turkarchpediatr.2022.22223" @default.
- W4313404788 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/36598218" @default.
- W4313404788 hasPublicationYear "2023" @default.
- W4313404788 type Work @default.
- W4313404788 citedByCount "1" @default.
- W4313404788 countsByYear W43134047882023 @default.
- W4313404788 crossrefType "journal-article" @default.
- W4313404788 hasAuthorship W4313404788A5013275279 @default.
- W4313404788 hasAuthorship W4313404788A5020551860 @default.
- W4313404788 hasAuthorship W4313404788A5021442374 @default.
- W4313404788 hasAuthorship W4313404788A5024040332 @default.
- W4313404788 hasAuthorship W4313404788A5025509724 @default.
- W4313404788 hasAuthorship W4313404788A5038070981 @default.
- W4313404788 hasAuthorship W4313404788A5051177902 @default.
- W4313404788 hasAuthorship W4313404788A5089823774 @default.
- W4313404788 hasConcept C104317684 @default.
- W4313404788 hasConcept C126322002 @default.
- W4313404788 hasConcept C16005928 @default.
- W4313404788 hasConcept C2777871287 @default.
- W4313404788 hasConcept C2778951934 @default.
- W4313404788 hasConcept C2781133459 @default.
- W4313404788 hasConcept C2781245598 @default.
- W4313404788 hasConcept C29906990 @default.
- W4313404788 hasConcept C36823959 @default.
- W4313404788 hasConcept C54355233 @default.
- W4313404788 hasConcept C71924100 @default.
- W4313404788 hasConcept C86803240 @default.
- W4313404788 hasConceptScore W4313404788C104317684 @default.
- W4313404788 hasConceptScore W4313404788C126322002 @default.
- W4313404788 hasConceptScore W4313404788C16005928 @default.
- W4313404788 hasConceptScore W4313404788C2777871287 @default.
- W4313404788 hasConceptScore W4313404788C2778951934 @default.
- W4313404788 hasConceptScore W4313404788C2781133459 @default.
- W4313404788 hasConceptScore W4313404788C2781245598 @default.
- W4313404788 hasConceptScore W4313404788C29906990 @default.
- W4313404788 hasConceptScore W4313404788C36823959 @default.
- W4313404788 hasConceptScore W4313404788C54355233 @default.
- W4313404788 hasConceptScore W4313404788C71924100 @default.
- W4313404788 hasConceptScore W4313404788C86803240 @default.
- W4313404788 hasIssue "1" @default.
- W4313404788 hasLocation W43134047881 @default.
- W4313404788 hasLocation W43134047882 @default.
- W4313404788 hasOpenAccess W4313404788 @default.
- W4313404788 hasPrimaryLocation W43134047881 @default.
- W4313404788 hasRelatedWork W1991498815 @default.
- W4313404788 hasRelatedWork W1992851568 @default.
- W4313404788 hasRelatedWork W2035719433 @default.
- W4313404788 hasRelatedWork W2049947195 @default.
- W4313404788 hasRelatedWork W2056048571 @default.
- W4313404788 hasRelatedWork W2233975806 @default.
- W4313404788 hasRelatedWork W2327607699 @default.
- W4313404788 hasRelatedWork W3153405641 @default.
- W4313404788 hasRelatedWork W4311714933 @default.
- W4313404788 hasRelatedWork W4313404788 @default.
- W4313404788 hasVolume "58" @default.
- W4313404788 isParatext "false" @default.
- W4313404788 isRetracted "false" @default.
- W4313404788 workType "article" @default.