Art

J-GLOBAL ID：201702277651725805   Reference number：17A0360005

Novel subtype of congenital partial lipodystrophy with mandibular hypoplasia, sensorineural deafness and short stature of unknown genetic origin

未知の遺伝的起源の下顎形成不全や,感音性難聴および低身長を伴う先天性部分的リポジストロフィーの新型サブタイプ

Author (7)： Sasaki Haruka (Campus Health and Health Support Center, Faculty of Arts and Science, Kyushu University, Fukuoka, Japan) ,  Sasaki Haruka (Division of Diabetic Medicine, Bunyukai Hara Hospital, Ohnojyo, Japan) ,  Ohkubo Kumiko (Department of Laboratory Medicine, School of Medicine, Fukuoka University, Fukuoka, Japan) ,  Kobayashi Kunihisa (Department of Endocrinology and Diabetes Mellitus, Fukuoka University Chikushi Hospital, Chikushino, Japan) ,  Tajiri Yuji (Division of Endocrinology and Metabolism, Kurume University School of Medicine, Kurume, Japan) ,  Ugi Satoshi (Department of Medicine, Shiga University of Medical Science, Otsu, Japan) ,  Kashwagi Atsunori (Department of Medicine, Shiga University of Medical Science, Otsu, Japan)
Material： Journal of Diabetes Investigation (Web)  (JDI (Web))
Volume： 8  Issue： 1  Page： 121-122  Publication year： 2017 
JST Material Number： U0507A  ISSN： 2040-1124  Document type： Article
Article type： 短報  Country of issue： United States (USA)  Language： ENGLISH (EN)

Thesaurus term： human(primates) ,...
Semi thesaurus term： hereditary determinant ,...

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JST classification (2)： Metabolic diseases,nutritional diseases in general.  (GD05010J) ,  Congenital diseases,deformities in general.  (GD03010V)

Reference (4)：

• Garg A. Acquired and inherited lipodystrophies. N Engl J Med 2004; 350: 1229-1234.
• Garg A. Lipodystrophies: genetic and acquired body fat disorders. J Clin Endocrinol Metab 2011; 96: 3313-3325.
• Simha V, Agrwal AK, Oral EA, et al. Genetic and phenotypic heterogeneity in patients with mandibuloacral dysplasia associated lipodystrophy. J Clin Endocrinol Metab 2003; 88: 2821-2824.
• Shastry S, Simha V, Godbole K, et al. A novel syndrome of mandibular hypoplasia, deafness, and progeroid features associated with lipodystrophy, undescended testes, and male hypogonadism. J Clin Endocrinol Metab 2010; 95: E192-E197.

Terms in the title (8)： 遺伝 ,  起源 ,  下顎 ,  形成不全 ,  感音性難聴 ,  低身長 ,  部分的リポジストロフィー ,  サブタイプ