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- Title
Thyroid hypogenesis is associated with a novel AKT3 germline variant that causes megalencephaly and cortical malformation.
- Authors
Mori, Jun; Hasegawa, Tatsuji; Miyamoto, Yosuke; Kitamura, Kazumasa; Morimoto, Hidechika; Tozawa, Takenori; Pooh, Ritsuko Kimata; Chiyonobu, Tomohiro
- Abstract
The molecular mechanisms involved in thyroid organogenesis have not been fully elucidated. We report a patient with a de novo germline AKT3 variant, NM_005465.7:c.233A > G, p.(Gln78Arg), who presented with congenital hypothyroidism in addition to typical AKT3-related brain disorders. The report of this patient contributes to delineating the associated yet uncertain endocrine complications of this AKT3 disease-causing variant.
- Subjects
GERM cells; CONGENITAL hypothyroidism; HUMAN abnormalities; MORPHOGENESIS; THYROID gland
- Publication
Human Genome Variation, 2022, Vol 9, Issue 1, p1
- ISSN
2054-345X
- Publication type
Article
- DOI
10.1038/s41439-022-00197-7