A severe form of the X-linked microphthalmia with linear skin defects syndrome in a female newborn.
Steichen-Gersdorf
Elisabeth
E
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.
Griesmaier
Elke
E
Pientka
Friederike K
FK
Kotzot
Dieter
D
Kutsche
Kerstin
K
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*