Matches in SemOpenAlex for { <https://semopenalex.org/work/W2021036168> ?p ?o ?g. }
Showing items 1 to 87 of
87
with 100 items per page.
- W2021036168 abstract "Spondylocarpotarsal synostosis syndrome (SSS) or congenital synspondylism is a recently delineated clinical entity. At least 15 patients have been reported. We present 3 new patients, 2 of whom were sibs born to first-cousin parents. All of our patients had multiple synostoses involving cervical, thoracic and/or lumbar vertebral bodies and carpal/tarsal bones, scoliosis/lordosis, and short stature. Sensorineural deafness was found in 2 of the 3 patients. Analysis of clinical manifestations suggests clinical variability and genetic heterogeneity in SSS. Of a total of 18 SSS patients, 10 were five pairs of sibs from five families, with first-cousin consanguinity of parents in 3, indicating that at least one type of SS is an autosomal-recessive disorder." @default.
- W2021036168 created "2016-06-24" @default.
- W2021036168 creator A5008351428 @default.
- W2021036168 creator A5035757703 @default.
- W2021036168 creator A5040691205 @default.
- W2021036168 creator A5058322409 @default.
- W2021036168 creator A5064984742 @default.
- W2021036168 creator A5069857407 @default.
- W2021036168 date "1998-04-28" @default.
- W2021036168 modified "2023-09-23" @default.
- W2021036168 title "Three new cases of spondylocarpotarsal synostosis syndrome: Clinical and radiographic studies" @default.
- W2021036168 cites W2013467179 @default.
- W2021036168 cites W2018827068 @default.
- W2021036168 cites W2041913665 @default.
- W2021036168 cites W2050564253 @default.
- W2021036168 cites W2117007493 @default.
- W2021036168 cites W2132026560 @default.
- W2021036168 cites W4247713806 @default.
- W2021036168 doi "https://doi.org/10.1002/(sici)1096-8628(19980428)77:1<12::aid-ajmg3>3.0.co;2-n" @default.
- W2021036168 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/9557886" @default.
- W2021036168 hasPublicationYear "1998" @default.
- W2021036168 type Work @default.
- W2021036168 sameAs 2021036168 @default.
- W2021036168 citedByCount "25" @default.
- W2021036168 countsByYear W20210361682013 @default.
- W2021036168 countsByYear W20210361682018 @default.
- W2021036168 countsByYear W20210361682021 @default.
- W2021036168 countsByYear W20210361682022 @default.
- W2021036168 crossrefType "journal-article" @default.
- W2021036168 hasAuthorship W2021036168A5008351428 @default.
- W2021036168 hasAuthorship W2021036168A5035757703 @default.
- W2021036168 hasAuthorship W2021036168A5040691205 @default.
- W2021036168 hasAuthorship W2021036168A5058322409 @default.
- W2021036168 hasAuthorship W2021036168A5064984742 @default.
- W2021036168 hasAuthorship W2021036168A5069857407 @default.
- W2021036168 hasConcept C104317684 @default.
- W2021036168 hasConcept C105702510 @default.
- W2021036168 hasConcept C126322002 @default.
- W2021036168 hasConcept C141071460 @default.
- W2021036168 hasConcept C148699463 @default.
- W2021036168 hasConcept C187212893 @default.
- W2021036168 hasConcept C188997412 @default.
- W2021036168 hasConcept C2776673712 @default.
- W2021036168 hasConcept C2777203189 @default.
- W2021036168 hasConcept C2777871287 @default.
- W2021036168 hasConcept C2779923321 @default.
- W2021036168 hasConcept C2780955175 @default.
- W2021036168 hasConcept C2992981700 @default.
- W2021036168 hasConcept C501734568 @default.
- W2021036168 hasConcept C54355233 @default.
- W2021036168 hasConcept C71924100 @default.
- W2021036168 hasConcept C86803240 @default.
- W2021036168 hasConceptScore W2021036168C104317684 @default.
- W2021036168 hasConceptScore W2021036168C105702510 @default.
- W2021036168 hasConceptScore W2021036168C126322002 @default.
- W2021036168 hasConceptScore W2021036168C141071460 @default.
- W2021036168 hasConceptScore W2021036168C148699463 @default.
- W2021036168 hasConceptScore W2021036168C187212893 @default.
- W2021036168 hasConceptScore W2021036168C188997412 @default.
- W2021036168 hasConceptScore W2021036168C2776673712 @default.
- W2021036168 hasConceptScore W2021036168C2777203189 @default.
- W2021036168 hasConceptScore W2021036168C2777871287 @default.
- W2021036168 hasConceptScore W2021036168C2779923321 @default.
- W2021036168 hasConceptScore W2021036168C2780955175 @default.
- W2021036168 hasConceptScore W2021036168C2992981700 @default.
- W2021036168 hasConceptScore W2021036168C501734568 @default.
- W2021036168 hasConceptScore W2021036168C54355233 @default.
- W2021036168 hasConceptScore W2021036168C71924100 @default.
- W2021036168 hasConceptScore W2021036168C86803240 @default.
- W2021036168 hasLocation W20210361681 @default.
- W2021036168 hasLocation W20210361682 @default.
- W2021036168 hasOpenAccess W2021036168 @default.
- W2021036168 hasPrimaryLocation W20210361681 @default.
- W2021036168 hasRelatedWork W1968002162 @default.
- W2021036168 hasRelatedWork W1985716957 @default.
- W2021036168 hasRelatedWork W1989323218 @default.
- W2021036168 hasRelatedWork W2004319112 @default.
- W2021036168 hasRelatedWork W2021036168 @default.
- W2021036168 hasRelatedWork W2072483375 @default.
- W2021036168 hasRelatedWork W2163349941 @default.
- W2021036168 hasRelatedWork W2607508392 @default.
- W2021036168 hasRelatedWork W2775535513 @default.
- W2021036168 hasRelatedWork W3047965675 @default.
- W2021036168 isParatext "false" @default.
- W2021036168 isRetracted "false" @default.
- W2021036168 magId "2021036168" @default.
- W2021036168 workType "article" @default.