Zobrazeno 1 - 2
of 2
pro vyhledávání: '"Soohwa Jin"'
Publikováno v:
Genes
Genes, Vol 12, Iss 575, p 575 (2021)
Genes, Vol 12, Iss 575, p 575 (2021)
Variants in the TUBB3 gene, one of the tubulin-encoding genes, are known to cause congenital fibrosis of the extraocular muscles type 3 and/or malformations of cortical development. Herein, we report a case of a 6-month-old infant with c.967A>G:p.(M3
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::45bd0c9dd447b045752730c3a11dcc9c
http://europepmc.org/articles/PMC8071555
http://europepmc.org/articles/PMC8071555
Autor:
Kalthoum Tizaoui, Jae Won Yang, Keum Hwa Lee, Ji Hong Kim, Minseok Kim, Sojung Yoon, Yeonwoo Jung, Park, Joon Beom, Kitae An, Hyeok Choi, Donggyu Song, HyunTaek Jung, Seongmin Ahn, Taeho Yuh, Hee Min Choi, Jae Ha Ahn, Younjuong Kim, Sanghyun Jee, Hyeongsun Lee, Soohwa Jin
Publikováno v:
International Journal of Biological Sciences; 2022, Vol. 18 Issue 9, p3731-3746, 16p