Nail-patella syndrome: report of 11 pediatric cases-Reference-Cited by-同舟云学术

Nail-patella syndrome: report of 11 pediatric cases

Published:2016-04-25 Issue:9 Volume:30 Page:1614-1617
ISSN:0926-9959
Container-title:Journal of the European Academy of Dermatology and Venereology
language:en
Short-container-title:J Eur Acad Dermatol Venereol

Author:

Figueroa-Silva O.¹,Vicente A.¹,Agudo A.¹,Baliu-Piqué C.¹,Gómez-Armayones S.¹,Aldunce-Soto M.J.¹,Inarejos Clemente E.J.²,Navallas Irujo M.²,Gutiérrez de la Iglesia D.³,González-Enseñat M.A.¹

Affiliation:

1. Department of Dermatology; Hospital Sant Joan de Déu; University of Barcelona; Barcelona Spain

2. Department of Diagnostic Imaging; Hospital Sant Joan de Déu; University of Barcelona; Barcelona Spain

3. Department of Orthopedics; Hospital Sant Joan de Déu; University of Barcelona; Barcelona Spain

Publisher

Wiley

Subject

Infectious Diseases,Dermatology

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1111/jdv.13683/fullpdf

Reference16 articles.

1. Mutations in LMX1B cause abnormal skeletal patterning and renal dysplasia in nail patella syndrome;Dreyer;Nat Genet,1998

2. Nail patella syndrome: a review of the phenotype aided by developmental biology;Sweeney;J Med Genet,2003

3. Limb and kidney defects in Lmx1b mutant mice suggest an involvement of LMX1B in human nail patella syndrome;Chen;Nat Genet,1998

4. Identification of entire LMX1B gene deletions in nail patella syndrome: evidence for haploinsufficiency as the main pathogenic mechanism underlying dominant inheritance in man;Bongers;Eur J Hum Genet,2008

5. Clinico-genetic study of nail-patella syndrome;Lee;J Korean Med Sci,2009

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