Literature DB >> 8279489

Two additional cases of the Ohdo blepharophimosis syndrome.

A Maat-Kievit1, H G Brunner, P Maaswinkel-Mooij.   

Abstract

Two additional cases of the Ohdo blepharophimosis syndrome are described and compared to the 5 patients previously reported. Blepharophimosis, ptosis, dental hypoplasia, mental retardation, and deafness can be considered as common manifestations of the syndrome. Male patients show cryptorchidism and scrotal hypoplasia.

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Year:  1993        PMID： 8279489     DOI： 10.1002/ajmg.1320470618

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


  5 in total

1.  Clinical Variability in Familial X-Linked Ohdo Syndrome-Maat-Kievit-Brunner Type with MED12 Mutation.

Authors:  Siddaramappa J Patil; Puneeth H Somashekar; Anju Shukla; Satish Siddaiah; Venkatraman Bhat; Katta M Girisha; Pooja N Rao
Journal:  J Pediatr Genet       Date:  2017-04-24

2.  Mutations in MED12 cause X-linked Ohdo syndrome.

Authors:  Anneke T Vulto-van Silfhout; Bert B A de Vries; Bregje W M van Bon; Alexander Hoischen; Martina Ruiterkamp-Versteeg; Christian Gilissen; Fangjian Gao; Marloes van Zwam; Cornelis L Harteveld; Anthonie J van Essen; Ben C J Hamel; Tjitske Kleefstra; Michèl A A P Willemsen; Helger G Yntema; Hans van Bokhoven; Han G Brunner; Thomas G Boyer; Arjan P M de Brouwer
Journal:  Am J Hum Genet       Date:  2013-02-07       Impact factor: 11.025

3.  A novel MED12 mutation associated with non-specific X-linked intellectual disability.

Authors:  Toshiyuki Yamamoto; Keiko Shimojima
Journal:  Hum Genome Var       Date:  2015-06-18

4.  An 8.4-Mb 3q26.33-3q28 microdeletion in a patient with blepharophimosis-intellectual disability syndrome and a review of the literature.

Authors:  Katrin Õunap; Sander Pajusalu; Olga Zilina; Tiia Reimand; Riina Žordania
Journal:  Clin Case Rep       Date:  2016-07-22

5.  MED12 Mutation in Two Families with X-Linked Ohdo Syndrome.

Authors:  Luca Rocchetti; Eloisa Evangelista; Luigia De Falco; Giovanni Savarese; Pasquale Savarese; Raffaella Ruggiero; Luigi D'Amore; Alberto Sensi; Antonio Fico
Journal:  Genes (Basel)       Date:  2021-08-27       Impact factor: 4.096
  5 in total

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