Microphthalmia with linear skin defects (MLS) syndrome: familial presentation-Reference-Cited by-同舟云学术

Microphthalmia with linear skin defects (MLS) syndrome: familial presentation

Published:2017-10-12 Issue:2 Volume:43 Page:196-197
ISSN:0307-6938
Container-title:Clinical and Experimental Dermatology
language:en
Short-container-title:Clin Exp Dermatol

Author:

Kumar P.¹^ORCID,Rajab A.²

Affiliation:

1. Department of Dermatology; Saham Hospital; PO Box 582 PC-319 Oman

2. Genetic Centre; Ministry of Health; Oman

Publisher

Wiley

Subject

Dermatology

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1111/ced.13298/fullpdf

Reference5 articles.

1. Online Mendelian Inheritance in Man, OMIM ® McKusick-Nathans Institute of Genetic Medicine Baltimore, MD Johns Hopkins University http://omim.org

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;van Rahden;Orphanet J Rare Dis,2014

3. Familial cases of a submicroscopic Xp22.2 deletion: genotype-phenotype correlation in microphthalmia with linear skin defects syndrome;Vergult;Mol Vis,2013

4. Skewed X inactivation in X-linked disorders;Van den Veyver;Semin Reprod Med,2001

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3. Microphthalmia, Linear Skin Defects, Callosal Agenesis, and Cleft Palate in a Patient with Deletion at Xp22.3p22.2;Journal of Pediatric Genetics;2020-01-03