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https://hdl.handle.net/11499/36936
Title: | Mild lamellar ichthyosis with a truncated homozygous TGM1 mutation in a pediatric patient from Turkey | Authors: | İmren, Işıl Göğem Tanacan, E. Ceylaner, S. Sumer, G. Eksioglu, M. |
Keywords: | emollient agent protein glutamine gamma glutamyltransferase pyroxylin transglutaminase 1 unclassified drug acanthosis birth weight case report cephalopelvic disproportion cesarean section child clinical article clinical feature disease course epidermis follow up gene mutation genetic association gestational age histopathology homozygosity human human tissue hyperkeratosis ichthyosis lamellar ichthyosis Letter newborn preschool child punch biopsy stop codon Turkey (republic) |
Publisher: | Blackwell Publishing Inc. | Abstract: | Abstract Not Available | URI: | https://hdl.handle.net/11499/36936 https://doi.org/10.1111/dth.14152 |
ISSN: | 1396-0296 |
Appears in Collections: | PubMed İndeksli Yayınlar Koleksiyonu / PubMed Indexed Publications Collection Scopus İndeksli Yayınlar Koleksiyonu / Scopus Indexed Publications Collection Tıp Fakültesi Koleksiyonu WoS İndeksli Yayınlar Koleksiyonu / WoS Indexed Publications Collection |
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