Literature DB >> 10826625

Woodhouse and Sakati syndrome (MIM 241080): report of a new patient.

D Gül, M Ozata, H Mergen, Z Odabaşi, M Mergen.   

Abstract

A 32-year-old male with Woodhouse Sakati syndrome (MIM 241080) is described. Two of the proband's brothers also have diabetes mellitus and similar facial features, however they are not dysarthric. An affected older brother died of an unknown cause at age 30. This confirms autosomal recessive inheritance.

Entities:  

Mesh：

Year:  2000        PMID： 10826625     DOI： 10.1097/00019605-200009020-00010

Source DB:  PubMed          Journal:  Clin Dysmorphol        ISSN： 0962-8827            Impact factor:   0.816


  8 in total

1.  Novel compound heterozygous frameshift mutations of C2orf37 in a familial Indian case of Woodhouse-Sakati syndrome.

Authors:  Mansoor C Abdulla; Anas M Alazami; Jemshad Alungal; Jassim M Koya; Mohthash Musambil
Journal:  J Genet       Date:  2015-09       Impact factor: 1.166

2.  Woodhouse Sakati syndrome associated with bilateral keratoconus.

Authors:  S A Al-Swailem; A A Al-Assiri; A A Al-Torbak
Journal:  Br J Ophthalmol       Date:  2006-01       Impact factor: 4.638

Review 3.  Neurodegenerative disorders associated with diabetes mellitus.

Authors:  Michael Ristow
Journal:  J Mol Med (Berl)       Date:  2004-06-03       Impact factor: 4.599

4.  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

5.  Woodhouse-Sakati Syndrome: Report of the First Tunisian Family with the C2orf37 Gene Mutation.

Authors:  Olfa Hdiji; Emna Turki; Nouha Bouzidi; Imen Bouchhima; Mariem Damak; Saeed Bohlega; Chokri Mhiri
Journal:  J Mov Disord       Date:  2016-05-25

6.  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

7.  Woodhouse-Sakati Syndrome Presenting With Psychotic Features After Starting Trihexyphenidyl: A Case Report.

Authors:  Mohammed A Aljaffer; Ahmad H Almadani; Mohammad AlMutlaq; Abdulaziz Alhammad; Ahmed S Alyahya
Journal:  Cureus       Date:  2022-08-01

8.  The Use of High-Density SNP Array to Map Homozygosity in Consanguineous Families to Efficiently Identify Candidate Genes: Application to Woodhouse-Sakati Syndrome.

Authors:  Molly B Sheridan; Elizabeth Wohler; Denise A S Batista; Carolyn Applegate; Julie Hoover-Fong
Journal:  Case Rep Genet       Date:  2015-11-17
  8 in total

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