Definitive diagnosis of mandibular hypoplasia, deafness, progeroid features and lipodystrophy (MDPL) syndrome caused by a recurrent de novo mutation in the POLD1 gene-Reference-Cited by-同舟云学术

Definitive diagnosis of mandibular hypoplasia, deafness, progeroid features and lipodystrophy (MDPL) syndrome caused by a recurrent de novo mutation in the POLD1 gene

Published:2018 Issue:2 Volume:65 Page:227-238
ISSN:0918-8959
Container-title:Endocrine Journal
language:en
Short-container-title:Endocr J

Author:

Sasaki Haruka¹²,Yanagi Kumiko³,Ugi Satoshi⁴,Kobayashi Kunihisa¹,Ohkubo Kumiko⁵,Tajiri Yuji⁶,Maegawa Hiroshi⁴,Kashiwagi Atsunori⁷,Kaname Tadashi³

Affiliation:

1. Department of Endocrinology and Diabetes Mellitus, Fukuoka University Chikushi Hospital, Chikushino, Fukuoka 818-8502, Japan

2. Division of Diabetic Medicine, Bunyukai Hara Hospital, Ohnojo, Fukuoka 816-0943, Japan

3. Department of Genome Medicine, National Research Institute for Child Health, Setagaya, Tokyo 157-8535, Japan

4. Department of Medicine, Shiga University of Medical Science, Otsu, Shiga 520-2192, Japan

5. Department of Laboratory Medicine, School of Medicine, Fukuoka University, Jonan-ku, Fukuoka 814-0180, Japan

6. Division of Endocrinology and Metabolism, Kurume University School of Medicine, Kurume, Fukuoka 830-0111, Japan

7. Diabetes Center, Seikokai Kusatsu General Hospital, Kusatsu, Shiga 525-8585, Japan

Publisher

Japan Endocrine Society

Subject

Endocrinology,Endocrinology, Diabetes and Metabolism

Link

https://www.jstage.jst.go.jp/article/endocrj/65/2/65_EJ17-0287/_pdf

Reference41 articles.

1. 1 Garg A (2011) Clinical review: lipodystrophies genetic and acquired body fat disorders. J Clin Endocrinol Metab 96: 3313–3325.

2. 2 Ficarella R, Laviola L, Giorgino F (2015) Lipodystrophic diabetes mellitus: a lesson for other forms of diabetes. Curr Diab Rep 15: 12.

3. 3 Huang-Doran I, Sleigh A, Rochford JJ, O’Rahilly S, Savage DB (2010) Lipodystrophy: metabolic insights from a rare disorder. J Endocrinol 207: 245–255.

4. 4 Hussan I, Garg A (2016) Lipodystrophy syndromes. Endocrinol Metab Clin North Am 45: 783–797.

5. 5 Brown RJ, Araujo-Vilar D, Cheung PT, Dunger D, Garg A, et al. (2016) The diagnosis and management of lipodystrophy syndrome: a multi-society practice guideline. J Clin Endocrinol Metab 101: 4500–4511.

Cited by 42 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. A family with brachydactyly mental retardation syndrome with a missense variant in HDAC4;CLIN PEDIATR ENDOCRI;2023

2. From cue to meaning: The involvement of POLD1 gene in DNA replication, repair and aging;Mechanisms of Ageing and Development;2023-04

3. A family with brachydactyly mental retardation syndrome with a missense variant in HDAC4;Clinical Pediatric Endocrinology;2023

4. A synonymous variant contributes to a rare Wiedemann-Rautenstrauch syndrome complicated with mild anemia via affecting pre-mRNA splicing;Frontiers in Molecular Neuroscience;2022-10-28

5. A likely pathogenic POLD1 variant associated with mandibular hypoplasia, deafness, progeroid features, and lipodystrophy syndrome in a Chinese patient;BMC Medical Genomics;2022-10-21