Literature DB >> 3926570

Rud syndrome revisited: ichthyosis, mental retardation, epilepsy and hypogonadism.

J Marxmiller, I Trenkle, S Ashwal.   

Abstract

Rud syndrome is a rare disorder of childhood characterized by ichthyosis, mental retardation, epilepsy and hypogonadism. The authors report a family with this autosomal recessive disorder, review the clinical and dermatopathological findings, and contrast Rud syndrome with the other major neuro-ichthyosiform dermatoses.

Entities:  

Mesh：

Year:  1985        PMID： 3926570     DOI： 10.1111/j.1469-8749.1985.tb04545.x

Source DB:  PubMed          Journal:  Dev Med Child Neurol        ISSN： 0012-1622            Impact factor:   5.449


  5 in total

Review 1.  X linked mental retardation.

Authors:  I A Glass
Journal:  J Med Genet       Date:  1991-06       Impact factor: 6.318

2.  The Juberg-Marsidi syndrome maps to the proximal long arm of the X chromosome (Xq12-q21).

Authors:  P Saugier-Veber; V Abadie; A Moncla; M Mathieu; C Piussan; C Turleau; J F Mattei; A Munnich; S Lyonnet
Journal:  Am J Hum Genet       Date:  1993-06       Impact factor: 11.025

Review 3.  Neuroectodermal (CHIME) syndrome: an additional case with long term follow up of all reported cases.

Authors:  V Shashi; J Zunich; T E Kelly; J S Fryburg
Journal:  J Med Genet       Date:  1995-06       Impact factor: 6.318

Review 4.  Male fertility and skin diseases.

Authors:  M Badawy Abdel-Naser; Christos C Zouboulis
Journal:  Rev Endocr Metab Disord       Date:  2016-09       Impact factor: 9.306

5.  Rud's syndrome.

Authors:  K Pavani; B S N Reddy; B Amar Singh
Journal:  Indian Dermatol Online J       Date:  2014-04
  5 in total

北京卡尤迪生物科技股份有限公司 © 2022-2023.