Literature DB >> 6499339

[Sibling cases with lipodystrophic skin change, muscular atrophy, recurrent skin eruptions, and deformities and contractures of the joints. A possible new clinical entity].

S Yamada, I Toyoshima, S Mori, T Tsubaki.   

Abstract

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Year:  1984        PMID： 6499339

Source DB:  PubMed          Journal:  Rinsho Shinkeigaku        ISSN： 0009-918X


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  4 in total

1.  An autosomal recessive syndrome of joint contractures, muscular atrophy, microcytic anemia, and panniculitis-associated lipodystrophy.

Authors:  Abhimanyu Garg; Maria Dolores Hernandez; Ana Berta Sousa; Lalitha Subramanyam; Laura Martínez de Villarreal; Heloísa G dos Santos; Oralia Barboza
Journal:  J Clin Endocrinol Metab       Date:  2010-06-09       Impact factor: 5.958

2.  CANDLE Syndrome: orodfacial manifestations and dental implications.

Authors:  T Roberts; L Stephen; C Scott; T di Pasquale; A Naser-Eldin; M Chetty; S Shaik; L Lewandowski; P Beighton
Journal:  Head Face Med       Date:  2015-12-28       Impact factor: 2.151

3.  PSMB8 encoding the β5i proteasome subunit is mutated in joint contractures, muscle atrophy, microcytic anemia, and panniculitis-induced lipodystrophy syndrome.

Authors:  Anil K Agarwal; Chao Xing; George N DeMartino; Dario Mizrachi; Maria Dolores Hernandez; Ana Berta Sousa; Laura Martínez de Villarreal; Heloísa G dos Santos; Abhimanyu Garg
Journal:  Am J Hum Genet       Date:  2010-12-10       Impact factor: 11.025

4.  An autopsy case of a syndrome with muscular atrophy, decreased subcutaneous fat, skin eruption and hyper gamma-globulinemia: peculiar vascular changes and muscle fiber degeneration.

Authors:  K Oyanagi; K Sasaki; E Ohama; F Ikuta; A Kawakami; N Miyatani; T Miyatake; S Yamada
Journal:  Acta Neuropathol       Date:  1987       Impact factor: 17.088
  4 in total

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