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Literature DB >> 14684697

Greenberg dysplasia (HEM) and lethal X linked dominant Conradi-Hünermann chondrodysplasia punctata (CDPX2): presentation of two cases with overlapping phenotype.

A C Offiah, S Mansour, I Jeffrey, R Nash, N Whittock, R Pyper, S Bewley, P T Clayton, C M Hall.

Abstract

Entities: Disease Gene Mutation

Mesh：

Substances：
Sterols
Cholesterol

Year: 2003 PMID： 14684697 PMCID： PMC1735332 DOI： 10.1136/jmg.40.12.e129

Source DB: PubMed Journal: J Med Genet ISSN： 0022-2593 Impact factor: 6.318

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Cited

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10 in total

Review 1. Radiographic features of the skeleton in disorders of post-squalene cholesterol biosynthesis.

Authors: Massimiliano Rossi; Christine M Hall; Raymonde Bouvier; Sophie Collardeau-Frachon; Frédérique Le Breton; Martine Bucourt; Marie Pierre Cordier; Christine Vianey-Saban; Giancarlo Parenti; Generoso Andria; Martine Le Merrer; Patrick Edery; Amaka C Offiah
Journal: Pediatr Radiol Date: 2015-02-03

Review 2. Antenatal manifestations of inborn errors of metabolism: prenatal imaging findings.

Authors: Laurent Guibaud; Sophie Collardeau-Frachon; Audrey Lacalm; Mona Massoud; Massimiliano Rossi; Marie Pierre Cordier; Christine Vianey-Saban
Journal: J Inherit Metab Dis Date: 2016-11-16 Impact factor: 4.982

3. New splicing pathogenic variant in EBP causing extreme familial variability of Conradi-Hünermann-Happle Syndrome.

Authors: Mathilde Pacault; Marie Vincent; Thomas Besnard; Caroline Kannengiesser; Claire Bénéteau; Sébastien Barbarot; Xénia Latypova; Khaldia Belabbas; Antonin Lamazière; Norbert Winer; Madeleine Joubert; Stéphane Bézieau; Bertrand Isidor; Sandra Mercier; Mathilde Nizon; Stéphanie Leclerc-Mercier; Smail Hadj-Rabia; Fabienne Dufernez
Journal: Eur J Hum Genet Date: 2018-08-22 Impact factor: 4.246

4. The danger of "multi-tasking": LBR out of control.

Authors: Harald Herrmann; Monika Zwerger
Journal: Nucleus Date: 2010-03-16 Impact factor: 4.197

5. Mutations causing Greenberg dysplasia but not Pelger anomaly uncouple enzymatic from structural functions of a nuclear membrane protein.

Authors: Peter Clayton; Björn Fischer; Anuska Mann; Sahar Mansour; Eva Rossier; Markus Veen; Christine Lang; Sevjidmaa Baasanjav; Moritz Kieslich; Katja Brossuleit; Sophia Gravemann; Nele Schnipper; Mohsen Karbasyian; Ilja Demuth; Monika Zwerger; Amparo Vaya; Gerd Utermann; Stefan Mundlos; Sigmar Stricker; Karl Sperling; Katrin Hoffmann
Journal: Nucleus Date: 2010-05-21 Impact factor: 4.197

6. Genetic architecture of band neutrophil fraction in Iceland.

Authors: Gudjon R Oskarsson; Magnus K Magnusson; Asmundur Oddsson; Brynjar O Jensson; Run Fridriksdottir; Gudny A Arnadottir; Hildigunnur Katrinardottir; Solvi Rognvaldsson; Gisli H Halldorsson; Gardar Sveinbjornsson; Erna V Ivarsdottir; Lilja Stefansdottir; Egil Ferkingstad; Kristjan Norland; Vinicius Tragante; Jona Saemundsdottir; Aslaug Jonasdottir; Adalbjorg Jonasdottir; Svanhvit Sigurjonsdottir; Karen O Petursdottir; Olafur B Davidsson; Thorunn Rafnar; Hilma Holm; Isleifur Olafsson; Pall T Onundarson; Brynjar Vidarsson; Olof Sigurdardottir; Gisli Masson; Daniel F Gudbjartsson; Ingileif Jonsdottir; Gudmundur L Norddahl; Unnur Thorsteinsdottir; Patrick Sulem; Kari Stefansson
Journal: Commun Biol Date: 2022-06-01

Review 10. A new case of Greenberg dysplasia and literature review suggest that Greenberg dysplasia, dappled diaphyseal dysplasia, and Astley-Kendall dysplasia are allelic disorders.

Authors: Pernille A Gregersen; Victoria McKay; Maie Walsh; Erica Brown; George McGillivray; Ravi Savarirayan
Journal: Mol Genet Genomic Med Date: 2020-04-18 Impact factor: 2.183