Japanese 17q12 Deletion Syndrome with Complex Clinical Manifestations-Reference-Cited by-同舟云学术

Japanese 17q12 Deletion Syndrome with Complex Clinical Manifestations

Published:2024-03-01 Issue:5 Volume:63 Page:687-692
ISSN:0918-2918
Container-title:Internal Medicine
language:en
Short-container-title:Intern. Med.

Author:

Hasegawa Yutaka¹,Takahashi Yoshihiko¹,Nagasawa Kan¹,Kinno Hirofumi¹,Oda Tomoyasu¹,Hangai Mari¹,Odashima Yoshimi¹,Suzuki Yoko¹,Shimizu Jun¹,Ando Toshihiko¹,Egawa Isao²,Hashizume Kouhei²,Nata Koji³,Yabe Daisuke⁴,Horikawa Yukio⁴⁵,Ishigaki Yasushi¹

Affiliation:

1. Division of Diabetes, Metabolism and Endocrinology, Department of Internal Medicine, Iwate Medical University, Japan

2. Department of Ophthalmology, School of Medicine, Iwate Medical University, Japan

3. Division of Medical Biochemistry, School of Pharmacy, Iwate Medical University, Japan

4. Department of Diabetes, Endocrinology and Metabolism/Department of Rheumatology and Clinical Immunology, Gifu University Graduate School of Medicine, Japan

5. Clinical Genetics Center, Gifu University Hospital, Japan

Publisher

Japanese Society of Internal Medicine

Link

https://www.jstage.jst.go.jp/article/internalmedicine/63/5/63_1660-23/_pdf

Reference27 articles.

1. 1. Carvill GL, Mefford HC. Microdeletion syndromes. Curr Opin Genet Dev 23: 232-239, 2013.

2. 2. Chaisson MJ, Wilson RK, Eichler EE. Genetic variation and the de novo assembly of human genomes. Nat Rev Genet 16: 627-640, 2015.

3. 3. George AM, Love DR, Hayes I, Tsang B. Recurrent transmission of a 17q12 microdeletion and a variable clinical spectrum. Mol Syndromol 2: 72-75, 2012.

4. 4. Wu HX, Li L, Zhang H, et al. Accurate diagnosis and heterogeneity analysis of a 17q12 deletion syndrome family with adulthood diabetes onset and complex clinical phenotypes. Endocrine 73: 37-46, 2021.

5. 5. Laffargue F, Bourthoumieu S, Llanas B, et al. Towards a new point of view on the phenotype of patients with a 17q12 microdeletion syndrome. Arch Dis Child 100: 259-264, 2015.