Literature DB >> 22612277

Microphthalmia with linear skin defects syndrome.

Ana García-Rabasco1, Blanca De-Unamuno, Francisco Martínez, Isabel Febrer-Bosch, Víctor Alegre-de-Miquel.   

Abstract

Microphthalmia with linear skin defects (MLS) or microcornea, dermal aplasia and sclerocornea (MIDAS) syndrome is a rare X-linked-dominant disorder. We present a patient with agenesis of corpus callosum, ocular abnormalities, and multiple skin defects. The cytogenetic studies of the MLS critical region (Xp22.2) were normal, but a skewed X-chromosome inactivation pattern (85:15) was observed.
© 2012 Wiley Periodicals, Inc.

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Year:  2012        PMID： 22612277     DOI： 10.1111/j.1525-1470.2012.01735.x

Source DB:  PubMed          Journal:  Pediatr Dermatol        ISSN： 0736-8046            Impact factor:   1.588


  3 in total

1.  Microphthalmia, Linear Skin Defects, Callosal Agenesis, and Cleft Palate in a Patient with Deletion at Xp22.3p22.2.

Authors:  Siulan Vendramini-Pittoli; Rosana Maria Candido-Souza; Rodrigo Gonçalves Quiezi; Roseli Maria Zechi-Ceide; Nancy Mizue Kokitsu-Nakata; Fernanda Sarquis Jehee; Lucilene Arilho Ribeiro-Bicudo; David R FitzPatrick; Maria Leine Guion-Almeida; Antonio Richieri-Costa
Journal:  J Pediatr Genet       Date:  2020-01-03

2.  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

3.  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
  3 in total

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