Literature DB >> 9559515

An XX male with microphthalmos and sclerocornea.

M Kobayashi1, M Kiyosawa, T Toyoura, T Tokoro.   

Abstract

Entities:  

Mesh：

Year:  1998        PMID： 9559515     DOI： 10.3928/0191-3913-19980301-15

Source DB:  PubMed          Journal:  J Pediatr Ophthalmol Strabismus        ISSN： 0191-3913            Impact factor:   1.402


× No keyword cloud information.
  4 in total

1.  Mutations in NDUFB11, encoding a complex I component of the mitochondrial respiratory chain, cause microphthalmia with linear skin defects syndrome.

Authors:  Vanessa A van Rahden; Erika Fernandez-Vizarra; Malik Alawi; Kristina Brand; Florence Fellmann; Denise Horn; Massimo Zeviani; Kerstin Kutsche
Journal:  Am J Hum Genet       Date:  2015-03-12       Impact factor: 11.025

2.  Mutations of the mitochondrial holocytochrome c-type synthase in X-linked dominant microphthalmia with linear skin defects syndrome.

Authors:  Isabella Wimplinger; Manuela Morleo; Georg Rosenberger; Daniela Iaconis; Ulrike Orth; Peter Meinecke; Israela Lerer; Andrea Ballabio; Andreas Gal; Brunella Franco; Kerstin Kutsche
Journal:  Am J Hum Genet       Date:  2006-09-06       Impact factor: 11.025

3.  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

4.  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
  4 in total

北京卡尤迪生物科技股份有限公司 © 2022-2023.