Zobrazeno 1 - 3
of 3
pro vyhledávání: '"Afërdita Tako Kumaraku"'
Autor:
Paskal Cullufi, Renald Meçani, Agim Gjikopulli, Laurant Kollçaku, Sonila Tomori, Armand Shehu, Aida Bushati, Kristi Aleksi, Afërdita Tako Kumaraku
Publikováno v:
Journal of Advances in Medicine and Medical Research. :46-50
Sotos syndrome is a rare genetic disorder with autosomal dominant inheritance, marked by overgrowth with macrocephaly, a distinctive facial appearance, and intellectual impairment. It occurs due to pathogenic variants encompassing the NSD1 gene. In a
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::c94b639ec588d060099b861e464027f7
https://doi.org/10.9734/jammr/2023/v35i34953
https://doi.org/10.9734/jammr/2023/v35i34953
Publikováno v:
International Journal of Advanced Research in Medicine. 4:16-22
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::cec6bf94001dc185e2aad12986636b14
https://doi.org/10.22271/27069567.2022.v4.i2a.389
https://doi.org/10.22271/27069567.2022.v4.i2a.389
Publikováno v:
American Journal of Medical Case Reports. 10:268-270
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::811af56374c1e66aa0e49c824e0b4417
https://doi.org/10.12691/ajmcr-10-10-4
https://doi.org/10.12691/ajmcr-10-10-4