Matches in SemOpenAlex for { <https://semopenalex.org/work/W2047732326> ?p ?o ?g. }
Showing items 1 to 69 of
69
with 100 items per page.
- W2047732326 endingPage "202" @default.
- W2047732326 startingPage "200" @default.
- W2047732326 abstract "We present a male infant with hypertelorism, median pseudo-cleft of the upper lip and cleft palate, lobulated tongue, hypoplastic larynx and epiglottis, mesomelic shortening of limbs with particularly short and broad tibiae, polydactyly of the upper limbs, severely hypoplastic external genitalia with anorchidism, anal atresia, severe congenital heart defect, and renal agenesis. These features show considerable overlap with severe Majewski type short rib-polydactyly syndrome and so expand the known spectrum of anomalies in orofaciodigital syndrome type IV." @default.
- W2047732326 created "2016-06-24" @default.
- W2047732326 creator A5069117667 @default.
- W2047732326 creator A5085889473 @default.
- W2047732326 date "1990-03-01" @default.
- W2047732326 modified "2023-09-27" @default.
- W2047732326 title "Orofaciodigital syndrome type IV (Mohr-Majewski syndrome) with severe expression expanding the known spectrum of anomalies." @default.
- W2047732326 cites W2003362335 @default.
- W2047732326 cites W2010070381 @default.
- W2047732326 cites W2054623605 @default.
- W2047732326 cites W2125259371 @default.
- W2047732326 cites W2135876425 @default.
- W2047732326 doi "https://doi.org/10.1136/jmg.27.3.200" @default.
- W2047732326 hasPubMedCentralId "https://www.ncbi.nlm.nih.gov/pmc/articles/1017006" @default.
- W2047732326 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/2325097" @default.
- W2047732326 hasPublicationYear "1990" @default.
- W2047732326 type Work @default.
- W2047732326 sameAs 2047732326 @default.
- W2047732326 citedByCount "46" @default.
- W2047732326 countsByYear W20477323262012 @default.
- W2047732326 countsByYear W20477323262013 @default.
- W2047732326 countsByYear W20477323262014 @default.
- W2047732326 countsByYear W20477323262015 @default.
- W2047732326 countsByYear W20477323262016 @default.
- W2047732326 countsByYear W20477323262017 @default.
- W2047732326 countsByYear W20477323262020 @default.
- W2047732326 countsByYear W20477323262023 @default.
- W2047732326 crossrefType "journal-article" @default.
- W2047732326 hasAuthorship W2047732326A5069117667 @default.
- W2047732326 hasAuthorship W2047732326A5085889473 @default.
- W2047732326 hasBestOaLocation W20477323261 @default.
- W2047732326 hasConcept C105702510 @default.
- W2047732326 hasConcept C126322002 @default.
- W2047732326 hasConcept C2777267824 @default.
- W2047732326 hasConcept C2777871287 @default.
- W2047732326 hasConcept C2779286207 @default.
- W2047732326 hasConcept C2781149206 @default.
- W2047732326 hasConcept C71924100 @default.
- W2047732326 hasConceptScore W2047732326C105702510 @default.
- W2047732326 hasConceptScore W2047732326C126322002 @default.
- W2047732326 hasConceptScore W2047732326C2777267824 @default.
- W2047732326 hasConceptScore W2047732326C2777871287 @default.
- W2047732326 hasConceptScore W2047732326C2779286207 @default.
- W2047732326 hasConceptScore W2047732326C2781149206 @default.
- W2047732326 hasConceptScore W2047732326C71924100 @default.
- W2047732326 hasIssue "3" @default.
- W2047732326 hasLocation W20477323261 @default.
- W2047732326 hasLocation W20477323262 @default.
- W2047732326 hasLocation W20477323263 @default.
- W2047732326 hasLocation W20477323264 @default.
- W2047732326 hasOpenAccess W2047732326 @default.
- W2047732326 hasPrimaryLocation W20477323261 @default.
- W2047732326 hasRelatedWork W1988359695 @default.
- W2047732326 hasRelatedWork W2023152939 @default.
- W2047732326 hasRelatedWork W2084126179 @default.
- W2047732326 hasRelatedWork W2085792732 @default.
- W2047732326 hasRelatedWork W2089140720 @default.
- W2047732326 hasRelatedWork W2095905416 @default.
- W2047732326 hasRelatedWork W2100302607 @default.
- W2047732326 hasRelatedWork W2147105634 @default.
- W2047732326 hasRelatedWork W2992300655 @default.
- W2047732326 hasRelatedWork W4322725012 @default.
- W2047732326 hasVolume "27" @default.
- W2047732326 isParatext "false" @default.
- W2047732326 isRetracted "false" @default.
- W2047732326 magId "2047732326" @default.
- W2047732326 workType "article" @default.