Zobrazeno 1 - 4
of 4
pro vyhledávání: '"Johanna Kotilainen"'
Publikováno v:
American Journal of Medical Genetics Part A. :2409-2414
The major diagnostic manifestations in Sotos syndrome include frontal bossing, downward slanting palpebral fissures, a prominent jaw, learning disability, and childhood overgrowth. Over 90% of clinically diagnosed patients have an abnormality in the
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b6a6e732eed6c57ffe0d884e647cface
https://doi.org/10.1002/ajmg.a.33062
https://doi.org/10.1002/ajmg.a.33062
Publikováno v:
European journal of orthodontics. 34(2)
Turner syndrome (TS) that is due to a total or partial lack of an X chromosome affects about 1 in 2000 girls. The syndrome is characterized by short stature and gonadal dysgenesis. Its documented craniofacial features include retrognathic jaws, a sho
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::59006d11fde987df0e8621bc08eb1553
https://pubmed.ncbi.nlm.nih.gov/22275513
https://pubmed.ncbi.nlm.nih.gov/22275513
Publikováno v:
Journal of dental research. 82(12)
Abnormalities of the short arm of chromosome 4 cause multiple congenital malformations, including craniofacial, oral, and dental manifestations. A candidate gene for oral defects in this region is MSX1, which is mandatory for normal oral and tooth de
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::13f21e579d5bb3823a7a8d4d1fd285d0
https://pubmed.ncbi.nlm.nih.gov/14630905
https://pubmed.ncbi.nlm.nih.gov/14630905
Autor:
Sinikka Pirinen, Johanna Kotilainen
Publikováno v:
American journal of medical genetics. 83(4)
Fragile X (FraX) syndrome is the most common cause of inherited mental retardation. The FraX gene (FMR1) has been cloned, and the mutation causing the disease is now known. We estimated the effect of FraX on dental development in 28 affected boys (ag
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::53a4f695d5de684c55710b2fea565e8f
https://pubmed.ncbi.nlm.nih.gov/10208165
https://pubmed.ncbi.nlm.nih.gov/10208165