Matches in SemOpenAlex for { <https://semopenalex.org/work/W4382918784> ?p ?o ?g. }
Showing items 1 to 94 of
94
with 100 items per page.
- W4382918784 endingPage "358" @default.
- W4382918784 startingPage "352" @default.
- W4382918784 abstract "Short stature is a common finding among the general population, mostly presented as an isolated phenotype. The syndromic short statute is rare and complex. Recently, we examined several patients from related families sharing both short stature and congenital dental abnormalities.1. Clinical characterization of syndromic short stature; 2. To find the disease mutation and evaluate the carrier state in the particular community.Clinical characterization- by medical history, medical records and physical examination; Homozygosity mapping - by using the Single nucleotide polymorphism (SNP) chromosomal microarrays (CMA) analysis and gene mutation detection by ABI Sanger sequence.All patients present with short stature severe dental anomalies including enamel formation and mineralization defect, oligodontia, abnormal shape and retarded eruption. CMA analysis in 3 patients and 2 healthy members of four families was normal. One homozygote region in chromosome 11 (11p11.2- 11q13.3) was found in all patients. By using the candidate gene approach, amongst the 301 genes found within this region, only one, the LTBP3 gene (Latent Transforming Growth Factor-Beta-Binding Protein-3) has high priority for sequence. Hence, LTBP3 (OMIM-602090) pathogenic variant is responsible for brachyolmia with amelogenesis imperfecta also known as Dental Anomalies and Short Stature (DASS) (OMIM- 601216). We sequenced all 29 LTBP3 exons and a novel splice pathogenic variant, c.1346-1G>A chr11:65319629, in exon 8 was identified. The variant segregated well within healthy tested family members. We found a high carrier rate in the village (1:15).We identified a novel and common LTBP3 gene pathogenic variant responsible for short stature, brachyolmia and amelogenesis imperfecta in Druze Arab patients." @default.
- W4382918784 created "2023-07-04" @default.
- W4382918784 creator A5006721822 @default.
- W4382918784 creator A5008744030 @default.
- W4382918784 creator A5017544245 @default.
- W4382918784 creator A5030516019 @default.
- W4382918784 creator A5034135223 @default.
- W4382918784 creator A5042662203 @default.
- W4382918784 creator A5053979066 @default.
- W4382918784 creator A5067111785 @default.
- W4382918784 creator A5070815660 @default.
- W4382918784 creator A5081061180 @default.
- W4382918784 creator A5092383185 @default.
- W4382918784 creator A5092383186 @default.
- W4382918784 date "2023-06-01" @default.
- W4382918784 modified "2023-09-26" @default.
- W4382918784 title "[IDENTIFICATION OF A NOVEL LTBP3 GENE PATHOGENIC VARIANT IN DRUZE ARAB PATIENTS PRESENTED WITH SYNDROMIC SHORT STATURE WITH BRACHYOLMIA AND AMELOGENESIS IMPERFECTA]." @default.
- W4382918784 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/37394436" @default.
- W4382918784 hasPublicationYear "2023" @default.
- W4382918784 type Work @default.
- W4382918784 citedByCount "0" @default.
- W4382918784 crossrefType "journal-article" @default.
- W4382918784 hasAuthorship W4382918784A5006721822 @default.
- W4382918784 hasAuthorship W4382918784A5008744030 @default.
- W4382918784 hasAuthorship W4382918784A5017544245 @default.
- W4382918784 hasAuthorship W4382918784A5030516019 @default.
- W4382918784 hasAuthorship W4382918784A5034135223 @default.
- W4382918784 hasAuthorship W4382918784A5042662203 @default.
- W4382918784 hasAuthorship W4382918784A5053979066 @default.
- W4382918784 hasAuthorship W4382918784A5067111785 @default.
- W4382918784 hasAuthorship W4382918784A5070815660 @default.
- W4382918784 hasAuthorship W4382918784A5081061180 @default.
- W4382918784 hasAuthorship W4382918784A5092383185 @default.
- W4382918784 hasAuthorship W4382918784A5092383186 @default.
- W4382918784 hasConcept C104317684 @default.
- W4382918784 hasConcept C120599132 @default.
- W4382918784 hasConcept C126322002 @default.
- W4382918784 hasConcept C135763542 @default.
- W4382918784 hasConcept C153209595 @default.
- W4382918784 hasConcept C156887251 @default.
- W4382918784 hasConcept C187212893 @default.
- W4382918784 hasConcept C199343813 @default.
- W4382918784 hasConcept C2777871287 @default.
- W4382918784 hasConcept C2780178515 @default.
- W4382918784 hasConcept C2908647359 @default.
- W4382918784 hasConcept C36823959 @default.
- W4382918784 hasConcept C501734568 @default.
- W4382918784 hasConcept C54355233 @default.
- W4382918784 hasConcept C69991583 @default.
- W4382918784 hasConcept C71924100 @default.
- W4382918784 hasConcept C76818968 @default.
- W4382918784 hasConcept C86803240 @default.
- W4382918784 hasConcept C89551170 @default.
- W4382918784 hasConcept C99454951 @default.
- W4382918784 hasConceptScore W4382918784C104317684 @default.
- W4382918784 hasConceptScore W4382918784C120599132 @default.
- W4382918784 hasConceptScore W4382918784C126322002 @default.
- W4382918784 hasConceptScore W4382918784C135763542 @default.
- W4382918784 hasConceptScore W4382918784C153209595 @default.
- W4382918784 hasConceptScore W4382918784C156887251 @default.
- W4382918784 hasConceptScore W4382918784C187212893 @default.
- W4382918784 hasConceptScore W4382918784C199343813 @default.
- W4382918784 hasConceptScore W4382918784C2777871287 @default.
- W4382918784 hasConceptScore W4382918784C2780178515 @default.
- W4382918784 hasConceptScore W4382918784C2908647359 @default.
- W4382918784 hasConceptScore W4382918784C36823959 @default.
- W4382918784 hasConceptScore W4382918784C501734568 @default.
- W4382918784 hasConceptScore W4382918784C54355233 @default.
- W4382918784 hasConceptScore W4382918784C69991583 @default.
- W4382918784 hasConceptScore W4382918784C71924100 @default.
- W4382918784 hasConceptScore W4382918784C76818968 @default.
- W4382918784 hasConceptScore W4382918784C86803240 @default.
- W4382918784 hasConceptScore W4382918784C89551170 @default.
- W4382918784 hasConceptScore W4382918784C99454951 @default.
- W4382918784 hasIssue "6" @default.
- W4382918784 hasLocation W43829187841 @default.
- W4382918784 hasOpenAccess W4382918784 @default.
- W4382918784 hasPrimaryLocation W43829187841 @default.
- W4382918784 hasRelatedWork W1531242872 @default.
- W4382918784 hasRelatedWork W2158909157 @default.
- W4382918784 hasRelatedWork W2578404270 @default.
- W4382918784 hasRelatedWork W2946785548 @default.
- W4382918784 hasRelatedWork W3005392072 @default.
- W4382918784 hasRelatedWork W3024030215 @default.
- W4382918784 hasRelatedWork W3080470345 @default.
- W4382918784 hasRelatedWork W3134335364 @default.
- W4382918784 hasRelatedWork W4283777888 @default.
- W4382918784 hasRelatedWork W4382918784 @default.
- W4382918784 hasVolume "162" @default.
- W4382918784 isParatext "false" @default.
- W4382918784 isRetracted "false" @default.
- W4382918784 workType "article" @default.