Identification of a novel mutation inRIPK4in a kindred with phenotypic features of Bartsocas-Papas and CHAND syndromes-Reference-Cited by-同舟云学术

Identification of a novel mutation inRIPK4in a kindred with phenotypic features of Bartsocas-Papas and CHAND syndromes

Published:2015-06-30 Issue:11 Volume:167 Page:2555-2562
ISSN:1552-4825
Container-title:American Journal of Medical Genetics Part A
language:en
Short-container-title:Am. J. Med. Genet.

Author:

Gollasch Benjamin¹,Basmanav Fitnat Buket¹,Nanda Arti²,Fritz Günter³,Mahmoudi Hassnaa¹,Thiele Holger⁴,Wehner Maria¹,Wolf Sabrina¹,Altmüller Janine⁴⁵,Nürnberg Peter⁴⁶⁷,Frank Jorge⁸,Betz Regina C.¹

Affiliation:

1. Institute of Human Genetics; University of Bonn; Bonn Germany

2. Genetic Skin Diseases Clinic; As'ad Al-Hamad Dermatology Center; Al-Sabah Hospital Kuwait

3. Department of Neuropathology; Neurozentrum; University of Freiburg; Freiburg Germany

4. Cologne Center for Genomics (CCG); University of Cologne; Cologne Germany

5. Institute of Human Genetics; University of Cologne; Cologne Germany

6. Cluster of Excellence on Cellular Stress Responses in Aging-Associated Diseases (CECAD); University of Cologne; Cologne Germany

7. Center for Molecular Medicine Cologne (CMMC); University of Cologne; Cologne Germany

8. Division of Dermatogenetics and Skin Cancer Center; Department of Dermatology; University of Düsseldorf; Düsseldorf Germany

Funder

BONFOR

German Research Foundation

Publisher

Wiley

Subject

Genetics(clinical),Genetics

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1002/ajmg.a.37233/fullpdf

Reference44 articles.

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2. Regulation of NF-kappaB activity and keratinocyte differentiation by the RIP4 protein: Implications for cutaneous wound repair;Adams;J Invest Dermatol,2007

3. Mutations in POGLUT1, encoding protein O-glucosyltransferase 1, cause autosomal-dominant Dowling-Degos disease;Basmanav;Am J Hum Genet,2014

4. CHANDS: The curly hair-ankyloblepharon-nail dysplasia syndrome;Baughman;Birth Defects Orig Artic Ser,1971

5. AEC syndrome and CHAND syndrome: Further evidence of clinical overlapping in the ectodermal dysplasias;Bertola;Pediatr Dermatol,2000

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