Literature DB >> 11424926

Molecular characterisation of a new case of microphthalmia with linear skin defects (MLS).

H Kayserili, T C Cox, L L Cox, S Basaran, G Kiliç, A Ballabio, M Yüksel-Apak.   

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Year:  2001        PMID： 11424926      PMCID： PMC1734893          DOI： 10.1136/jmg.38.6.411

Source DB:  PubMed          Journal:  J Med Genet        ISSN： 0022-2593            Impact factor:   6.318


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  5 in total

1.  A large X-chromosomal deletion is associated with microphthalmia with linear skin defects (MLS) and amelogenesis imperfecta (XAI).

Authors:  Grace M Hobson; Carolyn W Gibson; Melissa Aragon; Zhi-an Yuan; Angelique Davis-Williams; Linda Banser; Jennifer Kirkham; Alan H Brook
Journal:  Am J Med Genet A       Date:  2009-08       Impact factor: 2.802

Review 2.  Linear Skin Defects with Multiple Congenital Anomalies (LSDMCA): An Unconventional Mitochondrial Disorder.

Authors:  Alessia Indrieri; Brunella Franco
Journal:  Genes (Basel)       Date:  2021-02-11       Impact factor: 4.096

3.  A mosaic form of microphthalmia with linear skin defects.

Authors:  Nina Prepeluh; Bojan Korpar; Andreja Zagorac; Boris Zagradišnik; Andreja Golub; Nadja Kokalj Vokač
Journal:  BMC Pediatr       Date:  2018-08-01       Impact factor: 2.125

4.  Disorders caused by chromosome abnormalities.

Authors:  Aaron Theisen; Lisa G Shaffer
Journal:  Appl Clin Genet       Date:  2010-12-10

5.  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
  5 in total

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