Matches in SemOpenAlex for { <https://semopenalex.org/work/W2024304316> ?p ?o ?g. }
Showing items 1 to 83 of
83
with 100 items per page.
- W2024304316 endingPage "816" @default.
- W2024304316 startingPage "813" @default.
- W2024304316 abstract "We report on eight patients from seven different families affected with a syndrome which includes thumb defects, short stature, microcephaly, and mental retardation. Most of the patients had additional malformations, in particular amenorrhoea and azoospermia in the adults. There were no haematological manifestations and the chromosomes were normal without evidence of breakage even after stimulation. In five of the cases the probands' mother received hormonal treatment before or at the beginning of her pregnancy or both. The syndrome may be inherited as an autosomal recessive trait since the patients included both males and females and their parents were related in most cases. In addition, supporting this possibility, they all originated from a small village which may be considered as an isolate. However, in all cases but one, only one person was affected in each family and there was a significant apparent excess of healthy sibs of the probands. These observations may be the result of the variability of the syndrome or a more complex type of inheritance." @default.
- W2024304316 created "2016-06-24" @default.
- W2024304316 creator A5007093925 @default.
- W2024304316 creator A5032112522 @default.
- W2024304316 creator A5056435270 @default.
- W2024304316 creator A5060355061 @default.
- W2024304316 creator A5075373247 @default.
- W2024304316 creator A5082472879 @default.
- W2024304316 date "1997-10-01" @default.
- W2024304316 modified "2023-10-01" @default.
- W2024304316 title "A syndrome including thumb malformations, microcephaly, short stature, and hypogonadism." @default.
- W2024304316 cites W1995373041 @default.
- W2024304316 cites W2002689272 @default.
- W2024304316 cites W2062423918 @default.
- W2024304316 cites W2080357427 @default.
- W2024304316 doi "https://doi.org/10.1136/jmg.34.10.813" @default.
- W2024304316 hasPubMedCentralId "https://www.ncbi.nlm.nih.gov/pmc/articles/1051086" @default.
- W2024304316 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/9350812" @default.
- W2024304316 hasPublicationYear "1997" @default.
- W2024304316 type Work @default.
- W2024304316 sameAs 2024304316 @default.
- W2024304316 citedByCount "7" @default.
- W2024304316 countsByYear W20243043162013 @default.
- W2024304316 countsByYear W20243043162015 @default.
- W2024304316 countsByYear W20243043162021 @default.
- W2024304316 crossrefType "journal-article" @default.
- W2024304316 hasAuthorship W2024304316A5007093925 @default.
- W2024304316 hasAuthorship W2024304316A5032112522 @default.
- W2024304316 hasAuthorship W2024304316A5056435270 @default.
- W2024304316 hasAuthorship W2024304316A5060355061 @default.
- W2024304316 hasAuthorship W2024304316A5075373247 @default.
- W2024304316 hasAuthorship W2024304316A5082472879 @default.
- W2024304316 hasBestOaLocation W20243043161 @default.
- W2024304316 hasConcept C104317684 @default.
- W2024304316 hasConcept C187212893 @default.
- W2024304316 hasConcept C188997412 @default.
- W2024304316 hasConcept C2776395126 @default.
- W2024304316 hasConcept C2777420699 @default.
- W2024304316 hasConcept C2777688143 @default.
- W2024304316 hasConcept C2777871287 @default.
- W2024304316 hasConcept C2779234561 @default.
- W2024304316 hasConcept C3020341036 @default.
- W2024304316 hasConcept C501734568 @default.
- W2024304316 hasConcept C54355233 @default.
- W2024304316 hasConcept C71924100 @default.
- W2024304316 hasConcept C86803240 @default.
- W2024304316 hasConceptScore W2024304316C104317684 @default.
- W2024304316 hasConceptScore W2024304316C187212893 @default.
- W2024304316 hasConceptScore W2024304316C188997412 @default.
- W2024304316 hasConceptScore W2024304316C2776395126 @default.
- W2024304316 hasConceptScore W2024304316C2777420699 @default.
- W2024304316 hasConceptScore W2024304316C2777688143 @default.
- W2024304316 hasConceptScore W2024304316C2777871287 @default.
- W2024304316 hasConceptScore W2024304316C2779234561 @default.
- W2024304316 hasConceptScore W2024304316C3020341036 @default.
- W2024304316 hasConceptScore W2024304316C501734568 @default.
- W2024304316 hasConceptScore W2024304316C54355233 @default.
- W2024304316 hasConceptScore W2024304316C71924100 @default.
- W2024304316 hasConceptScore W2024304316C86803240 @default.
- W2024304316 hasIssue "10" @default.
- W2024304316 hasLocation W20243043161 @default.
- W2024304316 hasLocation W20243043162 @default.
- W2024304316 hasLocation W20243043163 @default.
- W2024304316 hasLocation W20243043164 @default.
- W2024304316 hasOpenAccess W2024304316 @default.
- W2024304316 hasPrimaryLocation W20243043161 @default.
- W2024304316 hasRelatedWork W2024304316 @default.
- W2024304316 hasRelatedWork W2053830541 @default.
- W2024304316 hasRelatedWork W2398241975 @default.
- W2024304316 hasRelatedWork W3004941617 @default.
- W2024304316 hasRelatedWork W3027734452 @default.
- W2024304316 hasRelatedWork W3095405941 @default.
- W2024304316 hasRelatedWork W3097278740 @default.
- W2024304316 hasRelatedWork W3116658849 @default.
- W2024304316 hasRelatedWork W3201110829 @default.
- W2024304316 hasRelatedWork W4297198965 @default.
- W2024304316 hasVolume "34" @default.
- W2024304316 isParatext "false" @default.
- W2024304316 isRetracted "false" @default.
- W2024304316 magId "2024304316" @default.
- W2024304316 workType "article" @default.