Xp22.3 Microdeletion syndrome with microphthalmia, sclerocornea, linear skin defects, and congenital heart defects
Author:
Publisher
Wiley
Subject
Genetics (clinical)
Reference10 articles.
1. Two 46,XX,t(X;Y) females with linear skin defects and congenital microphthalmia: a new syndrome at Xp22.3.
2. Abstracts of the meeting of the Clinical Genetics Society held on 7 and 8 April 1988 at the University of Oxford
3. Contiguous gene syndromes due to deletions in the distal short arm of the human X chromosome.
4. Inherited Chondrodysplasia Punctata Due to a Deletion of the Terminal Short Arm of an X Chromosome
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1. Linear Skin Defects with Multiple Congenital Anomalies (LSDMCA): An Unconventional Mitochondrial Disorder;Genes;2021-02-11
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;Orphanet Journal of Rare Diseases;2014-04-15
3. Síndrome de MIDAS: diagnóstico posnatal tras detectar en el feto un retraso del crecimiento intrauterino;Diagnóstico Prenatal;2013-04
4. Microphthalmia with Linear Skin Defects: A Case Report and Review;Pediatric Dermatology;2008-09
5. Phenotype in X chromosome rearrangements: pitfalls of X inactivation study;Pathologie Biologie;2007-02
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