Matches in SemOpenAlex for { <https://semopenalex.org/work/W3049279320> ?p ?o ?g. }
Showing items 1 to 91 of
91
with 100 items per page.
- W3049279320 endingPage "2436" @default.
- W3049279320 startingPage "2432" @default.
- W3049279320 abstract "Abstract Brachydactyly type A (BDA) is defined as short middle phalanges of the affected digits and is subdivided into four types (BDA1‐4). To date, the molecular cause is unknown. However, there is some evidence that pathogenic variants of HOXD13 could be associated with BDA3 and BDA4. Here, we report a Chinese autosomal dominant BDA3 pedigree with a novel HOXD13 mutation. The affected individuals presented with an obviously shorter fifth middle phalanx. The radial side of the middle phalanx was shorter than the ulnar side, and the terminal phalanx of the fifth finger inclined radially and formed classical clinodactyly. Interestingly, the index finger was normal. The initial diagnosis was BDA3. However, the distal third and fourth middle phalanges were also slightly affected, resulting in mild radial clinodactyly. Both feet showed shortening of the middle phalanges, which were fused to the distal phalanges of the second to the fifth toes, as reported in BDA4. Therefore, this pedigree had combined BDA3 and atypical BDA4. By direct sequencing, a 13 bp deletion within exon 1 of HOXD13 (NM_000523.4: c.708_720del13; NP_000514.2: p.Gly237fs) was identified. The 13 bp deletion resulted in a frameshift and premature termination of HOXD13. This study provides further evidences that variants in HOXD13 cause BDA3‐BDA4 phenotypes." @default.
- W3049279320 created "2020-08-21" @default.
- W3049279320 creator A5008192062 @default.
- W3049279320 creator A5011297565 @default.
- W3049279320 creator A5013074489 @default.
- W3049279320 creator A5037472498 @default.
- W3049279320 creator A5040876484 @default.
- W3049279320 creator A5053693099 @default.
- W3049279320 creator A5065236570 @default.
- W3049279320 creator A5087137381 @default.
- W3049279320 date "2020-08-13" @default.
- W3049279320 modified "2023-10-17" @default.
- W3049279320 title "Brachydactyly type <scp>A3</scp> is caused by a novel 13 bp <scp> <i>HOXD13</i> </scp> frameshift deletion in a Chinese family" @default.
- W3049279320 cites W1523395904 @default.
- W3049279320 cites W1554074914 @default.
- W3049279320 cites W1989082224 @default.
- W3049279320 cites W2023324616 @default.
- W3049279320 cites W2023844539 @default.
- W3049279320 cites W2027121472 @default.
- W3049279320 cites W2068710873 @default.
- W3049279320 cites W2075832106 @default.
- W3049279320 cites W2119391334 @default.
- W3049279320 cites W2150776265 @default.
- W3049279320 cites W2153848576 @default.
- W3049279320 cites W2161795621 @default.
- W3049279320 cites W2165354363 @default.
- W3049279320 cites W2606784366 @default.
- W3049279320 cites W3189630080 @default.
- W3049279320 doi "https://doi.org/10.1002/ajmg.a.61788" @default.
- W3049279320 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/32789964" @default.
- W3049279320 hasPublicationYear "2020" @default.
- W3049279320 type Work @default.
- W3049279320 sameAs 3049279320 @default.
- W3049279320 citedByCount "7" @default.
- W3049279320 countsByYear W30492793202021 @default.
- W3049279320 countsByYear W30492793202022 @default.
- W3049279320 countsByYear W30492793202023 @default.
- W3049279320 crossrefType "journal-article" @default.
- W3049279320 hasAuthorship W3049279320A5008192062 @default.
- W3049279320 hasAuthorship W3049279320A5011297565 @default.
- W3049279320 hasAuthorship W3049279320A5013074489 @default.
- W3049279320 hasAuthorship W3049279320A5037472498 @default.
- W3049279320 hasAuthorship W3049279320A5040876484 @default.
- W3049279320 hasAuthorship W3049279320A5053693099 @default.
- W3049279320 hasAuthorship W3049279320A5065236570 @default.
- W3049279320 hasAuthorship W3049279320A5087137381 @default.
- W3049279320 hasConcept C104317684 @default.
- W3049279320 hasConcept C105702510 @default.
- W3049279320 hasConcept C127716648 @default.
- W3049279320 hasConcept C134018914 @default.
- W3049279320 hasConcept C139542699 @default.
- W3049279320 hasConcept C2776950073 @default.
- W3049279320 hasConcept C2777871287 @default.
- W3049279320 hasConcept C2781133459 @default.
- W3049279320 hasConcept C29906990 @default.
- W3049279320 hasConcept C54355233 @default.
- W3049279320 hasConcept C86803240 @default.
- W3049279320 hasConceptScore W3049279320C104317684 @default.
- W3049279320 hasConceptScore W3049279320C105702510 @default.
- W3049279320 hasConceptScore W3049279320C127716648 @default.
- W3049279320 hasConceptScore W3049279320C134018914 @default.
- W3049279320 hasConceptScore W3049279320C139542699 @default.
- W3049279320 hasConceptScore W3049279320C2776950073 @default.
- W3049279320 hasConceptScore W3049279320C2777871287 @default.
- W3049279320 hasConceptScore W3049279320C2781133459 @default.
- W3049279320 hasConceptScore W3049279320C29906990 @default.
- W3049279320 hasConceptScore W3049279320C54355233 @default.
- W3049279320 hasConceptScore W3049279320C86803240 @default.
- W3049279320 hasFunder F4320321001 @default.
- W3049279320 hasFunder F4320326693 @default.
- W3049279320 hasIssue "10" @default.
- W3049279320 hasLocation W30492793201 @default.
- W3049279320 hasOpenAccess W3049279320 @default.
- W3049279320 hasPrimaryLocation W30492793201 @default.
- W3049279320 hasRelatedWork W1976385057 @default.
- W3049279320 hasRelatedWork W2021049097 @default.
- W3049279320 hasRelatedWork W2046418145 @default.
- W3049279320 hasRelatedWork W2049947195 @default.
- W3049279320 hasRelatedWork W2094656466 @default.
- W3049279320 hasRelatedWork W2117059216 @default.
- W3049279320 hasRelatedWork W3049279320 @default.
- W3049279320 hasRelatedWork W4247567740 @default.
- W3049279320 hasRelatedWork W4312609392 @default.
- W3049279320 hasRelatedWork W4322768924 @default.
- W3049279320 hasVolume "182" @default.
- W3049279320 isParatext "false" @default.
- W3049279320 isRetracted "false" @default.
- W3049279320 magId "3049279320" @default.
- W3049279320 workType "article" @default.