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MICROPHTHALMIA, SYNDROMIC 7

Known as: LSDMCA1, Syndromic Microphthalmia-7, Linear skin defects with multiple congenital anomalies 1 
National Institutes of Health

Related topics

Related topics

26 relations
Absence of septum pellucidumAgenesis of corpus callosumAnus, ImperforateAtrial Septal Defects

Broader (2)

Genetic Diseases, X-LinkedSkin Abnormalities

Papers overview

Semantic Scholar uses AI to extract papers important to this topic.
2009
2009
A large X‐chromosomal deletion is associated with microphthalmia with linear skin defects (MLS) and amelogenesis imperfecta (XAI)
A female patient is described with clinical symptoms of both microphthalmia with linear skin defects (MLS or MIDAS) and dental… 
2007
2007
Mother and daughter with a terminal Xp deletion: implication of chromosomal mosaicism and X-inactivation in the high clinical variability of the microphthalmia with linear skin defects (MLS) syndrome…
2005
2005
Microphthalmia with linear skin defects (MLS) syndrome: Clinical, cytogenetic, and molecular characterization of 11 cases
The microphthalmia with linear skin defects (MLS) syndrome (MIM 309801) is a severe and rare developmental disorder, which is… 
2003
2003
Xp22.3 Microdeletion in a 19‐Year‐Old Girl with Clinical Features of MLS Syndrome
Abstract: We describe a 19‐year‐old girl who has clinical features of microphthalmia with linear skin defects (MLS) syndrome… 
2002
2002
Microphthalmia with linear skin defects syndrome (MLS): a male with a mosaic paracentric inversion of Xp
The microphthalmia with linear skin defects syndrome (MLS) is an X-linked dominant disorder with male lethality. In the majority… 
Review
1999
Review
1999
Another observation of microphthalmia in an XX male: microphthalmia with linear skin defects syndrome without linear skin lesions
AbstractA case of microphthalmia with Xp microdeletion is reported. The patient was a boy who showed bilateral microphthalmia… 
1998
1998
Characterization and physical mapping in human and mouse of a novel RING finger gene in Xp22.
Microphthalmia with linear skin defects (MLS) is an X-linked dominant male-lethal syndrome caused by different deletions of… 
1998
1998
Second 46,XX male with MLS syndrome.
We report on a second 46,XX male with microphthalmia with linear skin defects (MLS) syndrome. In addition to microphthalmia and… 
Review
1998
Review
1998
Microphthalmia with linear skin defects syndrome in a mosaic female infant with monosomy for the Xp22 region: molecular analysis of the Xp22 breakpoint and the X-inactivation pattern
This paper describes a female infant with microphthalmia with linear skin defects syndrome (MLS) and monosomy for the Xp22 region… 
Review
1994
Review
1994
Female infant with oncocytic cardiomyopathy and microphthalmia with linear skin defects (MLS): a clue to the pathogenesis of oncocytic cardiomyopathy?
A infant girl had red stellate skin lesions on the cheeks and neck, and mildly short palpebral fissures. Her skin abnormality was… 
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