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3.10. GWAS of thyroid dysgenesis identifies a risk locus at 2q33.3 linked to regulation of Wnt signaling

S Narumi , R Opitz , K Nagasaki , K Muroya , Y Asakura , M Adachi , K Abe , C Sugisawa , P Kuhnen , T Ishii , MM Nothen , H Krude , T Hasegawa

Hum Mol Genet. 2022 May 10:ddac093. doi: 10.1093/hmg/ddac093. Online ahead of print. PMID: 35535691Brief Summary: This genome-wide association study (GWAS) of patients with thyroid dysgenesis identified a genetic risk locus for thyroid athyreosis and ectopy. In depth genetic analyses of the disease associated region suggested a new disease mechanism of thyroid dysgenesis mediated by impaired Wnt ...

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ey0021.8-4 | Important for Clinical Practice | ESPEYB21

8.4. Incidence and risk factors for adrenal crisis in pediatric-onset adrenal insufficiency: a prospective study

M Hosokawa , Y Ichihashi , Y Sato , N Shibata , K Nagasaki , K Ikegawa , Y Hasegawa , T Hamajima , F Nagamatsu , S Suzuki , C Numakura , N Amano , G Sasaki , K Nagahara , S Soneda , D Ariyasu , M Maeda , H Kamasaki , K Aso , T Hasegawa , T Ishii

Brief Summary: This study examined the incidence and risk factors for adrenal crisis (AC) in patients with pediatric-onset adrenal insufficiency (AI). AC occurs in a substantial number of children with AI, particularly in younger children due to their high number of infections.Comment: Adrenal crisis (AC) is a life-threatening complication in patients with adrenal insufficiency (AI) (1-4). The clinical features of AC are often nonspecific, and it may be ...

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ESPE Yearbook of Paediatric Endocrinology

3.10. GWAS of thyroid dysgenesis identifies a risk locus at 2q33.3 linked to regulation of Wnt signaling

8.4. Incidence and risk factors for adrenal crisis in pediatric-onset adrenal insufficiency: a prospective study

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