Literature DB >> 8779325

Progressive extrapyramidal disorder with primary hypogonadism and alopecia in sibs: a new syndrome?

K Devriendt1, E Legius, J P Fryns.   

Abstract

We report on 2 sibs with consanguineous parents, and an identical progressive extrapyramidal movement disorder with onset in adolescence and associated with progressive alopecia and primary hypogonadism. To our knowledge, this syndrome has not been reported, and probably represents a newly recognized autosomal recessive condition.

Entities:  

Mesh：

Year:  1996        PMID： 8779325     DOI： 10.1002/(SICI)1096-8628(19960301)62:1<54::AID-AJMG11>3.0.CO;2-U

Source DB:  PubMed          Journal:  Am J Med Genet        ISSN： 0148-7299


  5 in total

Review 1.  Endocrine disorders in Woodhouse-Sakati syndrome: a systematic review of the literature.

Authors:  M Agopiantz; P Corbonnois; A Sorlin; C Bonnet; M Klein; N Hubert; V Pascal-Vigneron; P Jonveaux; T Cuny; B Leheup; G Weryha
Journal:  J Endocrinol Invest       Date:  2014-01-08       Impact factor: 4.256

2.  Alopecia, neurological defects, and endocrinopathy syndrome caused by decreased expression of RBM28, a nucleolar protein associated with ribosome biogenesis.

Authors:  Janna Nousbeck; Ronen Spiegel; Akemi Ishida-Yamamoto; Margarita Indelman; Ayelet Shani-Adir; Noam Adir; Ehud Lipkin; Sivan Bercovici; Dan Geiger; Maurice A van Steensel; Peter M Steijlen; Reuven Bergman; Albrecht Bindereif; Mordechai Choder; Stavit Shalev; Eli Sprecher
Journal:  Am J Hum Genet       Date:  2008-04-24       Impact factor: 11.025

3.  Phenotypic heterogeneity in Woodhouse-Sakati syndrome: two new families with a mutation in the C2orf37 gene.

Authors:  Tawfeg Ben-Omran; Rehab Ali; Mariam Almureikhi; Seham Alameer; Muna Al-Saffar; Christopher A Walsh; Jillian M Felie; Ahmad Teebi
Journal:  Am J Med Genet A       Date:  2011-09-30       Impact factor: 2.802

4.  Phenotypic Variability of c.436delC DCAF17 Gene Mutation in Woodhouse-Sakati Syndrome.

Authors:  Mohammad Almeqdadi; Jennifer L Kemppainen; Pavel N Pichurin; Ralitza H Gavrilova
Journal:  Am J Case Rep       Date:  2018-03-25

5.  Primary hypogonadism, partial alopecia, and Müllerian hypoplasia: report of a fifth family and review.

Authors:  Ruqayah G Y Al-Obaidi; Bassam M S Al-Musawi
Journal:  Clin Case Rep       Date:  2017-08-24
  5 in total

北京卡尤迪生物科技股份有限公司 © 2022-2023.