Matches in SemOpenAlex for { <https://semopenalex.org/work/W170763693> ?p ?o ?g. }
Showing items 1 to 72 of
72
with 100 items per page.
- W170763693 abstract "Rieger syndrome (MIM No{sup *}180500) is characterized by malformation of the anterior chamber of the eye, hypodontia, and the failure of the periumbilical skin to involute. Recently, consistent chromosomal abnormalities within 4q23{r_arrow}q27 have been reported with Rieger syndrome, and significant linkage of Rieger syndrome to 4q markers has been identified. Here we present a case of Rieger syndrome with de novo t(1;4)(q21,q25). The propositus was the first product of a 37-year-old mother and unrelated 42-year-old father. He was born at 41 weeks of gestation. Birth weight was 3,955 g length 50.0 cm, and OFC 37.0 cm. He had irregular shaped pupils with a prominent Schwalbe`s line, umbilical hernia, bilateral vesico-ureteral regurgitation, gall stones, infantile spasms, and hypoplasia of the corpus callosum and agenesis of the anterior commissure. This and other previous reports suggest that the gene for Rieger syndrome maps to the 4q25{r_arrow}q26 segment. A cell line from our patient will contribute to isolating the gene for Rieger syndrome." @default.
- W170763693 created "2016-06-24" @default.
- W170763693 creator A5005242725 @default.
- W170763693 creator A5007413039 @default.
- W170763693 creator A5014069398 @default.
- W170763693 date "1994-09-01" @default.
- W170763693 modified "2023-09-24" @default.
- W170763693 title "A case of de novo reciprocal translocation t(1;4)(q21;25) associated with Rieger syndrome" @default.
- W170763693 hasPublicationYear "1994" @default.
- W170763693 type Work @default.
- W170763693 sameAs 170763693 @default.
- W170763693 citedByCount "0" @default.
- W170763693 crossrefType "journal-article" @default.
- W170763693 hasAuthorship W170763693A5005242725 @default.
- W170763693 hasAuthorship W170763693A5007413039 @default.
- W170763693 hasAuthorship W170763693A5014069398 @default.
- W170763693 hasConcept C104317684 @default.
- W170763693 hasConcept C105702510 @default.
- W170763693 hasConcept C138626823 @default.
- W170763693 hasConcept C141071460 @default.
- W170763693 hasConcept C199343813 @default.
- W170763693 hasConcept C2777943302 @default.
- W170763693 hasConcept C2779048510 @default.
- W170763693 hasConcept C2779096551 @default.
- W170763693 hasConcept C2779385247 @default.
- W170763693 hasConcept C2780327212 @default.
- W170763693 hasConcept C2781197730 @default.
- W170763693 hasConcept C54355233 @default.
- W170763693 hasConcept C71924100 @default.
- W170763693 hasConcept C86803240 @default.
- W170763693 hasConceptScore W170763693C104317684 @default.
- W170763693 hasConceptScore W170763693C105702510 @default.
- W170763693 hasConceptScore W170763693C138626823 @default.
- W170763693 hasConceptScore W170763693C141071460 @default.
- W170763693 hasConceptScore W170763693C199343813 @default.
- W170763693 hasConceptScore W170763693C2777943302 @default.
- W170763693 hasConceptScore W170763693C2779048510 @default.
- W170763693 hasConceptScore W170763693C2779096551 @default.
- W170763693 hasConceptScore W170763693C2779385247 @default.
- W170763693 hasConceptScore W170763693C2780327212 @default.
- W170763693 hasConceptScore W170763693C2781197730 @default.
- W170763693 hasConceptScore W170763693C54355233 @default.
- W170763693 hasConceptScore W170763693C71924100 @default.
- W170763693 hasConceptScore W170763693C86803240 @default.
- W170763693 hasLocation W1707636931 @default.
- W170763693 hasOpenAccess W170763693 @default.
- W170763693 hasPrimaryLocation W1707636931 @default.
- W170763693 hasRelatedWork W1983645785 @default.
- W170763693 hasRelatedWork W1992654074 @default.
- W170763693 hasRelatedWork W2013550949 @default.
- W170763693 hasRelatedWork W2014103897 @default.
- W170763693 hasRelatedWork W2018905708 @default.
- W170763693 hasRelatedWork W2022207498 @default.
- W170763693 hasRelatedWork W2022694694 @default.
- W170763693 hasRelatedWork W2043787739 @default.
- W170763693 hasRelatedWork W2052200669 @default.
- W170763693 hasRelatedWork W2052219408 @default.
- W170763693 hasRelatedWork W2063330030 @default.
- W170763693 hasRelatedWork W2068276201 @default.
- W170763693 hasRelatedWork W2078651882 @default.
- W170763693 hasRelatedWork W2081004197 @default.
- W170763693 hasRelatedWork W2091053809 @default.
- W170763693 hasRelatedWork W2142332109 @default.
- W170763693 hasRelatedWork W2171150038 @default.
- W170763693 hasRelatedWork W2417375361 @default.
- W170763693 hasRelatedWork W2886694889 @default.
- W170763693 hasRelatedWork W334154425 @default.
- W170763693 hasVolume "55" @default.
- W170763693 isParatext "false" @default.
- W170763693 isRetracted "false" @default.
- W170763693 magId "170763693" @default.
- W170763693 workType "article" @default.