Case Reports
doi: 10.1136/jmg.28.2.143-a.
Linear skin defects and congenital microphthalmia: a new syndrome at Xp22.2
- PMID: 2002490
- PMCID: PMC1016789
- DOI: 10.1136/jmg.28.2.143-a
Item in Clipboard
Case Reports
Linear skin defects and congenital microphthalmia: a new syndrome at Xp22.2
J Med Genet.
1991 Feb.
No abstract available
Comment on
-
De novo deletion of Xp22.2-pter in a female with linear skin lesions of the face and neck, microphthalmia, and anterior chamber eye anomalies.J Med Genet. 1990 Jan;27(1):56-8. doi: 10.1136/jmg.27.1.56. J Med Genet. 1990. PMID: 2308156 Free PMC article.
-
Two 46,XX,t(X;Y) females with linear skin defects and congenital microphthalmia: a new syndrome at Xp22.3.J Med Genet. 1990 Jan;27(1):59-63. doi: 10.1136/jmg.27.1.59. J Med Genet. 1990. PMID: 2308157 Free PMC article.
Similar articles
-
Xp22.3 microdeletion syndrome with microphthalmia, sclerocornea, linear skin defects, and congenital heart defects.Am J Med Genet. 1992 Sep 1;44(1):61-5. doi: 10.1002/ajmg.1320440115. Am J Med Genet. 1992. PMID: 1519653
-
De novo deletion of Xp22.2-pter in a female with linear skin lesions of the face and neck, microphthalmia, and anterior chamber eye anomalies.J Med Genet. 1990 Jan;27(1):56-8. doi: 10.1136/jmg.27.1.56. J Med Genet. 1990. PMID: 2308156 Free PMC article.
-
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.Hum Genet. 1998 Jul;103(1):51-6. doi: 10.1007/s004390050782. Hum Genet. 1998. PMID: 9737776 Review.
-
Two 46,XX,t(X;Y) females with linear skin defects and congenital microphthalmia: a new syndrome at Xp22.3.J Med Genet. 1990 Jan;27(1):59-63. doi: 10.1136/jmg.27.1.59. J Med Genet. 1990. PMID: 2308157 Free PMC article.
-
Another observation of microphthalmia in an XX male: microphthalmia with linear skin defects syndrome without linear skin lesions.J Hum Genet. 1999;44(1):63-8. doi: 10.1007/s100380050110. J Hum Genet. 1999. PMID: 9929982 Review.
Cited by
-
Linear Skin Defects with Multiple Congenital Anomalies (LSDMCA): An Unconventional Mitochondrial Disorder.Genes (Basel). 2021 Feb 11;12(2):263. doi: 10.3390/genes12020263. Genes (Basel). 2021. PMID: 33670341 Free PMC article. Review.
-
A Novel 4-Gene Score to Predict Survival, Distant Metastasis and Response to Neoadjuvant Therapy in Breast Cancer.Cancers (Basel). 2020 May 2;12(5):1148. doi: 10.3390/cancers12051148. Cancers (Basel). 2020. PMID: 32370309 Free PMC article.
-
Deletions of Xp provide evidence for the role of holocytochrome C-type synthase (HCCS) in congenital diaphragmatic hernia.Am J Med Genet A. 2010 Jun;152A(6):1588-90. doi: 10.1002/ajmg.a.33410. Am J Med Genet A. 2010. PMID: 20503342 Free PMC article. No abstract available.
-
Mutations in NDUFB11, encoding a complex I component of the mitochondrial respiratory chain, cause microphthalmia with linear skin defects syndrome.Am J Hum Genet. 2015 Apr 2;96(4):640-50. doi: 10.1016/j.ajhg.2015.02.002. Epub 2015 Mar 12. Am J Hum Genet. 2015. PMID: 25772934 Free PMC article.
-
Chromosome abnormalities and the genetics of congenital corneal opacification.Mol Vis. 2011;17:1624-40. Epub 2011 Jun 17. Mol Vis. 2011. PMID: 21738392 Free PMC article.
References
Publication types
MeSH terms
LinkOut - more resources
Full Text Sources
