Literature DB >> 21044051

A novel C2orf37 mutation causes the first Italian cases of Woodhouse Sakati syndrome.

K Steindl, A M Alazami, K P Bhatia, J T Wuerfel, D Petersen, R Cartolari, G Neri, C Klein, B Mongiardo, F S Alkuraya, S A Schneider.   

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Year:  2010        PMID： 21044051     DOI： 10.1111/j.1399-0004.2010.01447.x

Source DB:  PubMed          Journal:  Clin Genet        ISSN： 0009-9163            Impact factor:   4.438


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  5 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

Review 2.  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

3.  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

4.  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

5.  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
  5 in total

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