Genotype-Phenotype Correlations Emerging from the Identification of Missense Mutations inMBTPS2-Reference-Cited by-同舟云学术

Genotype-Phenotype Correlations Emerging from the Identification of Missense Mutations inMBTPS2

Published:2013-03 Issue: Volume: Page:n/a-n/a
ISSN:1059-7794
Container-title:Human Mutation
language:en
Short-container-title:Human Mutation

Author:

Bornholdt Dorothea¹,Atkinson T. Prescott²,Bouadjar Bakar³,Catteau Benoit⁴,Cox Helen⁵,De Silva Deepthi⁶,Fischer Judith⁷,Gunasekera Chalukya N.⁸,Hadj-Rabia Smaïl⁹,Happle Rudolf¹⁰,Holder-Espinasse Muriel¹¹,Kaminski Elke¹²,König Arne¹³,Mégarbané André¹⁴,Mégarbané Hala¹⁵,Neidel Ulrike¹,Oeffner Frank¹,Oji Vinzenz¹⁶,Theos Amy¹⁷,Traupe Heiko¹⁶,Vahlquist Anders¹⁸,van Bon Bregje W.¹⁹,Virtanen Marie¹⁸,Grzeschik Karl-Heinz¹

Affiliation:

1. Institut fuer Humangenetik; Philipps-Universitaet; Marburg; Germany

2. Children's Hospital; UAB; Birmingham; Alabama; Germany

3. Department of Dermatology; CHU of Bab-El-Oued; Algiers; Algeria

4. Service de Dermatologie et de Pédiatrie; Hôpital Jeanne de Flandre, CHRU; Lille; France

5. West Midlands Regional Genetic Service; Birmingham Women's Foundation Trust; Birmingham; UK

6. Faculty of Medicine; University of Kelaniya; Ragama; Sri Lanka

7. Freiburg University Medical Center; Institute of Human Genetics; Freiburg i. Br.; Germany

8. North Colombo Teaching Hospital; Ragama; Sri Lanka

9. Service de Dermatologie; Hôpital Necker - Enfants Malades; Paris; France

10. Universitaets-Hautklinik; Universitaetsklinikum Freiburg; Freiburg i. Br.; Germany

11. Clinical Genetics; Guy's Hospital; London; UK

12. Praxis für Humangenetik-Altona; Hamburg; Germany

13. Universitaets-Hautklinik; Philipps-Universitaet; Marburg; Germany

14. Unité de Génétique Médicale; Université Saint Joseph; Beirut; Lebanon

15. Service de Dermatologie; Saint Georges Hospital; Beirut; Lebanon

16. Universitaets-Hautklinik; Universitaet Muenster; Muenster; Germany

17. Children's Health System; Children's South; Birmingham; Alabama

18. Department of Medical Sciences; University Hospital, Uppsala University; Uppsala; Sweden

19. Department of Human Genetics; Radboud University Nijmegen Medical Centre; Nijmegen; The Netherlands

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1002/humu.22275/fullpdf

Reference30 articles.

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2. Atrichia, ichthyosis, follicular hyperkeratosis, chronic candidiasis, keratitis, seizures, mental retardation and inguinal hernia: a severe manifestation of IFAP syndrome?;Boente;Eur J Dermatol,2000

3. Nuclear protein that binds sterol regulatory element of low density lipoprotein receptor promoter. I. Identification of the protein and delineation of its target nucleotide sequence;Briggs;J Biol Chem,1993

4. Ichthyosis follicularis with atrichia and photophobia (IFAP) syndrome in two unrelated female patients;Cambiaghi;J Am Acad Dermatol,2002

5. New insights into S2P signaling cascades: regulation, variation, and conservation;Chen;Protein Sci,2010

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