Matches in SemOpenAlex for { <https://semopenalex.org/work/W2080412912> ?p ?o ?g. }
Showing items 1 to 91 of
91
with 100 items per page.
- W2080412912 endingPage "257" @default.
- W2080412912 startingPage "250" @default.
- W2080412912 abstract "Townes-Brocks syndrome (TBS) is a condition with imperforate anus, hand anomalies, and ear malformations with sensorineural hearing loss. Many cases are sporadic. Within and between families, the phenotype displays striking variability. Recently, the disease-causing gene for TBS was identified as SALL1, a zinc finger transcription factor. Here, we report a three-generation family with seven affected individuals who have a novel SALL1 mutation. Unique cardiac anomalies seen in this family include lethal truncus arteriosus in one patient and a lethal complicated defect, including pulmonary valve atresia, in a second patient. These severe cardiac anomalies have not previously been reported in a familial case of TBS. This family and a review of the literature indicate that cardiac evaluation is warranted in all individuals with this disorder. In addition, hypoplastic thumbs were seen in two individuals in this family and should, therefore, be considered a true feature of TBS." @default.
- W2080412912 created "2016-06-24" @default.
- W2080412912 creator A5008658304 @default.
- W2080412912 creator A5014139604 @default.
- W2080412912 creator A5019986332 @default.
- W2080412912 creator A5028673120 @default.
- W2080412912 creator A5029870635 @default.
- W2080412912 date "2001-01-01" @default.
- W2080412912 modified "2023-09-24" @default.
- W2080412912 title "Unique family with Townes-Brocks syndrome,SALL1 mutation, and cardiac defects" @default.
- W2080412912 cites W1975829825 @default.
- W2080412912 cites W1978934956 @default.
- W2080412912 cites W1984783519 @default.
- W2080412912 cites W1985179564 @default.
- W2080412912 cites W1985919272 @default.
- W2080412912 cites W1998844086 @default.
- W2080412912 cites W2017924606 @default.
- W2080412912 cites W2037129794 @default.
- W2080412912 cites W2052683237 @default.
- W2080412912 cites W2054409499 @default.
- W2080412912 cites W2062179055 @default.
- W2080412912 cites W2062389380 @default.
- W2080412912 cites W2065937304 @default.
- W2080412912 cites W2069497739 @default.
- W2080412912 cites W2113746119 @default.
- W2080412912 cites W2143006458 @default.
- W2080412912 cites W2163112285 @default.
- W2080412912 cites W2769943597 @default.
- W2080412912 doi "https://doi.org/10.1002/1096-8628(20010815)102:3<250::aid-ajmg1479>3.0.co;2-q" @default.
- W2080412912 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/11484202" @default.
- W2080412912 hasPublicationYear "2001" @default.
- W2080412912 type Work @default.
- W2080412912 sameAs 2080412912 @default.
- W2080412912 citedByCount "33" @default.
- W2080412912 countsByYear W20804129122012 @default.
- W2080412912 countsByYear W20804129122014 @default.
- W2080412912 countsByYear W20804129122016 @default.
- W2080412912 countsByYear W20804129122017 @default.
- W2080412912 countsByYear W20804129122019 @default.
- W2080412912 countsByYear W20804129122020 @default.
- W2080412912 countsByYear W20804129122021 @default.
- W2080412912 countsByYear W20804129122022 @default.
- W2080412912 countsByYear W20804129122023 @default.
- W2080412912 crossrefType "journal-article" @default.
- W2080412912 hasAuthorship W2080412912A5008658304 @default.
- W2080412912 hasAuthorship W2080412912A5014139604 @default.
- W2080412912 hasAuthorship W2080412912A5019986332 @default.
- W2080412912 hasAuthorship W2080412912A5028673120 @default.
- W2080412912 hasAuthorship W2080412912A5029870635 @default.
- W2080412912 hasConcept C105702510 @default.
- W2080412912 hasConcept C164705383 @default.
- W2080412912 hasConcept C2776127031 @default.
- W2080412912 hasConcept C2778646171 @default.
- W2080412912 hasConcept C2780074459 @default.
- W2080412912 hasConcept C2780298129 @default.
- W2080412912 hasConcept C2780493683 @default.
- W2080412912 hasConcept C2780607864 @default.
- W2080412912 hasConcept C548259974 @default.
- W2080412912 hasConcept C71924100 @default.
- W2080412912 hasConceptScore W2080412912C105702510 @default.
- W2080412912 hasConceptScore W2080412912C164705383 @default.
- W2080412912 hasConceptScore W2080412912C2776127031 @default.
- W2080412912 hasConceptScore W2080412912C2778646171 @default.
- W2080412912 hasConceptScore W2080412912C2780074459 @default.
- W2080412912 hasConceptScore W2080412912C2780298129 @default.
- W2080412912 hasConceptScore W2080412912C2780493683 @default.
- W2080412912 hasConceptScore W2080412912C2780607864 @default.
- W2080412912 hasConceptScore W2080412912C548259974 @default.
- W2080412912 hasConceptScore W2080412912C71924100 @default.
- W2080412912 hasIssue "3" @default.
- W2080412912 hasLocation W20804129121 @default.
- W2080412912 hasLocation W20804129122 @default.
- W2080412912 hasOpenAccess W2080412912 @default.
- W2080412912 hasPrimaryLocation W20804129121 @default.
- W2080412912 hasRelatedWork W1990326678 @default.
- W2080412912 hasRelatedWork W2051348912 @default.
- W2080412912 hasRelatedWork W2060633079 @default.
- W2080412912 hasRelatedWork W2080412912 @default.
- W2080412912 hasRelatedWork W2104292958 @default.
- W2080412912 hasRelatedWork W2396369280 @default.
- W2080412912 hasRelatedWork W2409049338 @default.
- W2080412912 hasRelatedWork W2951804012 @default.
- W2080412912 hasRelatedWork W3154292761 @default.
- W2080412912 hasRelatedWork W4236912202 @default.
- W2080412912 hasVolume "102" @default.
- W2080412912 isParatext "false" @default.
- W2080412912 isRetracted "false" @default.
- W2080412912 magId "2080412912" @default.
- W2080412912 workType "article" @default.