Matches in SemOpenAlex for { <https://semopenalex.org/work/W1974150527> ?p ?o ?g. }
Showing items 1 to 76 of
76
with 100 items per page.
- W1974150527 endingPage "1496" @default.
- W1974150527 startingPage "1491" @default.
- W1974150527 abstract "Abstract This report describes a young girl and her cousin presenting with postnatal short stature, strabismus, photophobia, retinitis pigmentosa, short neck, rhizomelic shortening of the long bones, short and slightly bowed humeri with prominent deltoid tuberosities, short and wide ribs and clavicles, dorso‐lumbar scoliosis, biconcave vertebral bodies of the thoraco‐lumbar spine, and narrowed lumbar canal. In addition, in the girl there were amelogenesis imperfecta of the hypomaturation type, and the radiographs showed short distal ulnae, sloping epiphyses of the radii, short femoral necks, and slightly flat uncovered femoral heads. The children's parents are first cousins. Differential diagnoses are discussed and the possibility of a newly recognized oculo‐skeletal syndrome is raised. © 2006 Wiley‐Liss, Inc." @default.
- W1974150527 created "2016-06-24" @default.
- W1974150527 creator A5028804707 @default.
- W1974150527 creator A5036395415 @default.
- W1974150527 creator A5046256857 @default.
- W1974150527 creator A5046679293 @default.
- W1974150527 date "2006-06-12" @default.
- W1974150527 modified "2023-10-18" @default.
- W1974150527 title "A newly recognized autosomal recessive syndrome with short stature and oculo-skeletal involvement" @default.
- W1974150527 cites W2019003209 @default.
- W1974150527 cites W2023008304 @default.
- W1974150527 cites W2038385527 @default.
- W1974150527 cites W2044595486 @default.
- W1974150527 cites W2052834069 @default.
- W1974150527 cites W2064594882 @default.
- W1974150527 cites W2082194071 @default.
- W1974150527 cites W4247713806 @default.
- W1974150527 doi "https://doi.org/10.1002/ajmg.a.31316" @default.
- W1974150527 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/16770799" @default.
- W1974150527 hasPublicationYear "2006" @default.
- W1974150527 type Work @default.
- W1974150527 sameAs 1974150527 @default.
- W1974150527 citedByCount "11" @default.
- W1974150527 countsByYear W19741505272013 @default.
- W1974150527 countsByYear W19741505272014 @default.
- W1974150527 countsByYear W19741505272015 @default.
- W1974150527 countsByYear W19741505272017 @default.
- W1974150527 countsByYear W19741505272021 @default.
- W1974150527 crossrefType "journal-article" @default.
- W1974150527 hasAuthorship W1974150527A5028804707 @default.
- W1974150527 hasAuthorship W1974150527A5036395415 @default.
- W1974150527 hasAuthorship W1974150527A5046256857 @default.
- W1974150527 hasAuthorship W1974150527A5046679293 @default.
- W1974150527 hasBestOaLocation W19741505271 @default.
- W1974150527 hasConcept C105702510 @default.
- W1974150527 hasConcept C141071460 @default.
- W1974150527 hasConcept C187212893 @default.
- W1974150527 hasConcept C2777668750 @default.
- W1974150527 hasConcept C2777871287 @default.
- W1974150527 hasConcept C2778375840 @default.
- W1974150527 hasConcept C2780554211 @default.
- W1974150527 hasConcept C2909231237 @default.
- W1974150527 hasConcept C29694066 @default.
- W1974150527 hasConcept C71924100 @default.
- W1974150527 hasConceptScore W1974150527C105702510 @default.
- W1974150527 hasConceptScore W1974150527C141071460 @default.
- W1974150527 hasConceptScore W1974150527C187212893 @default.
- W1974150527 hasConceptScore W1974150527C2777668750 @default.
- W1974150527 hasConceptScore W1974150527C2777871287 @default.
- W1974150527 hasConceptScore W1974150527C2778375840 @default.
- W1974150527 hasConceptScore W1974150527C2780554211 @default.
- W1974150527 hasConceptScore W1974150527C2909231237 @default.
- W1974150527 hasConceptScore W1974150527C29694066 @default.
- W1974150527 hasConceptScore W1974150527C71924100 @default.
- W1974150527 hasIssue "14" @default.
- W1974150527 hasLocation W19741505271 @default.
- W1974150527 hasLocation W19741505272 @default.
- W1974150527 hasOpenAccess W1974150527 @default.
- W1974150527 hasPrimaryLocation W19741505271 @default.
- W1974150527 hasRelatedWork W1966788670 @default.
- W1974150527 hasRelatedWork W2049058565 @default.
- W1974150527 hasRelatedWork W2110159669 @default.
- W1974150527 hasRelatedWork W2337446719 @default.
- W1974150527 hasRelatedWork W2382022921 @default.
- W1974150527 hasRelatedWork W2411387756 @default.
- W1974150527 hasRelatedWork W2913914538 @default.
- W1974150527 hasRelatedWork W2914860412 @default.
- W1974150527 hasRelatedWork W3155643593 @default.
- W1974150527 hasRelatedWork W4251102536 @default.
- W1974150527 hasVolume "140A" @default.
- W1974150527 isParatext "false" @default.
- W1974150527 isRetracted "false" @default.
- W1974150527 magId "1974150527" @default.
- W1974150527 workType "article" @default.