Literature DB >> 19726975

MIDAS (microphthalmia, dermal aplasia, sclerocornea) syndrome with central nervous system abnormalities.

Kursat Bora Carman1, Ayten Yakut, Ilham Sabuncu, Coskun Yarar.   

Abstract

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Mesh：

Year:  2009        PMID： 19726975     DOI： 10.1097/MCD.0b013e32832e38a6

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


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  2 in total

1.  Familial cases of a submicroscopic Xp22.2 deletion: genotype-phenotype correlation in microphthalmia with linear skin defects syndrome.

Authors:  Sarah Vergult; Bart Leroy; Ilse Claerhout; Björn Menten
Journal:  Mol Vis       Date:  2013-02-06       Impact factor: 2.367

2.  Clinical spectrum of females with HCCS mutation: from no clinical signs to a neonatal lethal form of the microphthalmia with linear skin defects (MLS) syndrome.

Authors:  Vanessa A van Rahden; Isabella Rau; Sigrid Fuchs; Friederike K Kosyna; Hiram Larangeira de Almeida; Helen Fryssira; Bertrand Isidor; Anna Jauch; Madeleine Joubert; Augusta M A Lachmeijer; Christiane Zweier; Ute Moog; Kerstin Kutsche
Journal:  Orphanet J Rare Dis       Date:  2014-04-15       Impact factor: 4.123
  2 in total

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