Discordance for Schimmelpenning-Feuerstein-Mims syndrome in monochorionic twins supports the concept of a postzygotic mutation

American Journal of Medical Genetics, Part A

Volumn 152, Issue 11, 2010, Pages 2816-2819

  Rijntjes Jacobs, Esther G J ^a   Lopriore, Enrico ^a   Steggerda, Sylke J ^a   Kant, Sarina G ^a   Walther, Frans J ^a  

^a LEIDEN UNIVERSITY MEDICAL CENTER   (Netherlands)

Author keywords

Epidermal nevus syndrome; Jadassohn nevus phakomatosis; Linear nevus sebaceus syndrome; Monozygosity; Mosaicism; Postzygotic mutation; Schimmelpenning Feuerstein Mims syndrome; Twins

Indexed keywords

GENOMIC DNA;

ALOPECIA; ARTICLE; BRAIN ATROPHY; CASE REPORT; COLOBOMA; CORNEA DISEASE; CRYPTOPHTHALMOS; DISEASE SEVERITY; EYELID DISEASE; HUMAN; HUMAN TISSUE; MALE; MALFORMATION SYNDROME; MICROCORNEA; MONOZYGOTIC TWINS; NEWBORN; PLEURA EFFUSION; PRIORITY JOURNAL; SCHIMMELPENNING FEUERSTEIN MIMS SYNDROME; SEBACEOUS NEVUS; SUPRAVENTRICULAR PREMATURE BEAT; TERATOMA; TWIN DISCORDANCE;

ABNORMALITIES, MULTIPLE; FATAL OUTCOME; FEMALE; HUMANS; INFANT, NEWBORN; MUTATION; NEVUS; NEVUS, SEBACEOUS OF JADASSOHN; PREGNANCY; TWINS, MONOZYGOTIC; ZYGOTE;

EID: 78049278007     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.33635     Document Type: Article

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