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Issues

Volume 3, Issue 4
October 2012
Molecular Syndromology Cover Image for Volume 3, Issue 4
All Issues
ISSN 1661-8769
EISSN 1661-8777

Molecular Syndromology 2012, Vol. 3, No. 4

Editorial

Don’t Mess with RUNX1
M. Poot
Mol Syndromol (2012) 3 (4): 143–144. https://doi.org/10.1159/000342878
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Review Article

LEOPARD Syndrome: Clinical Features and Gene Mutations
E. Martínez-Quintana; F. Rodríguez-González
Mol Syndromol (2012) 3 (4): 145–157. https://doi.org/10.1159/000342251
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Further Section

Erratum
Mol Syndromol (2012) 3 (4): 157. https://doi.org/10.1159/000342899
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Original Article

From the Transcription of Genes Involved in Ectodermal Dysplasias to the Understanding of Associated Dental Anomalies
V. Laugel-Haushalter; A. Langer; J. Marrie; V. Fraulob; B. Schuhbaur; M. Koch-Phillips; P. Dollé; A. Bloch-Zupan
Mol Syndromol (2012) 3 (4): 158–168. https://doi.org/10.1159/000342833
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Partial Blindness to Submicron Topography in NF1 Haploinsufficient Cultured Fibroblasts Indicates a New Function of Neurofibromin in Regulation of Mechanosensoric
D. Kaufmann; J. Hoesch; Y. Su; L. Deeg; K. Mellert; J.P. Spatz; R. Kemkemer
Mol Syndromol (2012) 3 (4): 169–179. https://doi.org/10.1159/000342698
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Case Report

Infrequent Manifestations of Kabuki Syndrome in a Patient with Novel MLL2 Mutation
Y.A. Zarate; H. Zhan; J.R. Jones
Mol Syndromol (2012) 3 (4): 180–184. https://doi.org/10.1159/000342253
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Short Report

Inverted Duplication and Deletion of 10q25q26 in a Patient without Any Obvious Skeletal Anomalies
B. Xiao; X. Ji; Y. Xing; W.-T. Jiang; J.-M. Zhang; J. Tao
Mol Syndromol (2012) 3 (4): 185–189. https://doi.org/10.1159/000343047
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Erratum - A Patient with Organic Acidemia, Hyperammonemia, and a FBXL4 Variant Suggesting Mitochondrial DNA Depletion Syndrome
Identification of the genetic causes of inherited diseases in a North African biobank: implications for genetic diagnosis
HIRA, NKX2-5 and GATA4 alterations versus cardiac malformations related to 22q11.2 deletion syndrome.
Pamidronate Treatment of a patient with Opsismodysplasia and a novel INPPL1 variant – Efficacy, Mechanism and Clinical Outcomes
  • Online ISSN 1661-8777
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