Xp22.3 Microdeletion in a 19‐Year‐Old Girl with Clinical Features of MLS Syndrome-Reference-Cited by-同舟云学术

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Xp22.3 Microdeletion in a 19‐Year‐Old Girl with Clinical Features of MLS Syndrome

Published:2003-03 Issue:2 Volume:20 Page:153-157
ISSN:0736-8046
Container-title:Pediatric Dermatology
language:en
Short-container-title:Pediatric Dermatology

Author:

Enright F.¹,Campbell P.²,Stallings R. L.³,Hall K.³,Green A. J.³⁴,Sweeney E.⁵,Barnes L.⁶,Watson R.¹⁶

Affiliation:

1. Departments of Dermatology and

2. Pathology, and

3. National Center for Medical Genetics, Our Lady's Hospital for Sick Children,

4. Department of Medical Genetics, University College, and Departments of

5. Pathology and

6. Dermatology, St. James Hospital, Dublin, Ireland

Publisher

Wiley

Subject

Dermatology,Pediatrics, Perinatology, and Child Health

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1046/j.1525-1470.2003.20213.x

Reference12 articles.

1. An XX male and two t(X;Y) females with linear skin defects and congenital microphthalmia in a new syndrome at Xp22.3;Al‐Gazali LI;Med Genet,1988

2. MIDAS syndrome (microphthalmia, dermal aplasia, and sclerocornea): An X-linked phenotype distinct from Goltz syndrome

3. MIDAS syndrome respectively MLS syndrome: A separate entity rather than a particular lyonization pattern of the gene causing Goltz syndrome

4. Poikiloderma Congenitale: Case Report and Review of the Literature

5. Xp Microdeletion Syndrome Characterized by Pathognomonic Linear Skin Defects on the Head and Neck

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1. MIDAS Syndrome (Microphthalmia with Linear Skin Defects);Neurocutaneous Disorders;2022

2. Linear Skin Defects with Multiple Congenital Anomalies (LSDMCA): An Unconventional Mitochondrial Disorder;Genes;2021-02-11

3. A practical approach to the evaluation and treatment of an infant with aplasia cutis congenita;Journal of Perinatology;2017-10-19

4. Disorders of the eye as a whole;Taylor and Hoyt's Pediatric Ophthalmology and Strabismus;2017

5. Developmental malformations;Neurocutaneous Disorders;2016

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