title: A severe form of the X-linked microphthalmia with linear skin defects syndrome in a female newborn.
authors.affiliation: Department of Pediatrics and Adolescent Medicine Division of Clinical Genetics, Department of Medical Genetics, Molecular and Clinical Pharmacology, Innsbruck Medical University, Innsbruck, Austria Department of Human Genetics, University Medical Center Hamburg-Eppendorf, Hamburg, Germany.
authors.forename: Elisabeth
authors.initials: E
authors.lastname: Steichen-Gersdorf
authors.forename: Elke
authors.initials: E
authors.lastname: Griesmaier
authors.forename: Friederike K
authors.initials: FK
authors.lastname: Pientka
authors.forename: Dieter
authors.initials: D
authors.lastname: Kotzot
authors.forename: Kerstin
authors.initials: K
authors.lastname: Kutsche
mesh_terms: D000015:Abnormalities, Multiple / Q000473:pathology*; D002675:Child, Preschool; D002872:Chromosome Deletion; D041321:Chromosomes, Human, X / Q000235:genetics*; D005260:Female; D050172:Genes, X-Linked; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D008850:Microphthalmos / Q000150:complications* / Q000235:genetics* / Q000473:pathology; D011247:Pregnancy; D012868:Skin Abnormalities / Q000150:complications*