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Hypomorphic mutations of TRIP11 cause odontochondrodysplasia.
Wehrle A, Witkos TM, Unger S, Schneider J, Follit JA, Hermann J, Welting T, Fano V, Hietala M, Vatanavicharn N, Schoner K, Spranger J, Schmidts M, Zabel B, Pazour GJ, Bloch-Zupan A, Nishimura G, Superti-Furga A, Lowe M, Lausch E. Wehrle A, et al. Among authors: schoner k. JCI Insight. 2019 Feb 7;4(3):e124701. doi: 10.1172/jci.insight.124701. JCI Insight. 2019. PMID: 30728324 Free PMC article.
Hydrocephalus, agenesis of the corpus callosum, and cleft lip/palate represent frequent associations in fetuses with Peters' plus syndrome and B3GALTL mutations. Fetal PPS phenotypes, expanded by Dandy Walker cyst and encephalocele.
Schoner K, Kohlhase J, Müller AM, Schramm T, Plassmann M, Schmitz R, Neesen J, Wieacker P, Rehder H. Schoner K, et al. Prenat Diagn. 2013 Jan;33(1):75-80. doi: 10.1002/pd.4012. Epub 2012 Nov 13. Prenat Diagn. 2013. PMID: 23161355
Smith-Lemli-Opitz syndrome - Fetal phenotypes with special reference to the syndrome-specific internal malformation pattern.
Schoner K, Witsch-Baumgartner M, Behunova J, Petrovic R, Bald R, Kircher SG, Ramaswamy A, Kluge B, Meyer-Wittkopf M, Schmitz R, Fritz B, Zschocke J, Laccone F, Rehder H. Schoner K, et al. Birth Defects Res. 2020 Jan 15;112(2):175-185. doi: 10.1002/bdr2.1620. Epub 2019 Dec 16. Birth Defects Res. 2020. PMID: 31840946 Free PMC article.
Fetal Pathology of Neural Tube Defects - An Overview of 68 Cases.
Schoner K, Axt-Fliedner R, Bald R, Fritz B, Kohlhase J, Kohl T, Rehder H. Schoner K, et al. Geburtshilfe Frauenheilkd. 2017 May;77(5):495-507. doi: 10.1055/s-0043-103459. Epub 2017 May 24. Geburtshilfe Frauenheilkd. 2017. PMID: 28579621 Free PMC article.
27 results