Keutel syndrome: Report of two novelMGPmutations and discussion of clinical overlap with arylsulfatase E deficiency and relapsing polychondritis-Reference-Cited by-同舟云学术

Keutel syndrome: Report of two novelMGPmutations and discussion of clinical overlap with arylsulfatase E deficiency and relapsing polychondritis

Published:2014-01-23 Issue:4 Volume:164 Page:1062-1068
ISSN:1552-4825
Container-title:American Journal of Medical Genetics Part A
language:en
Short-container-title:Am. J. Med. Genet.

Author:

Weaver K. Nicole¹,El Hallek Moussa²,Hopkin Robert J.¹,Sund Kristen L.¹,Henrickson Michael²,del Gaudio Daniela³,Yuksel Adnan⁴,Acar Gül Ozbilen⁵,Bober Michael B.⁶,Kim Jinoh⁷,Boyadjiev Simeon A.⁷

Affiliation:

1. Department of Pediatrics; Division of Human Genetics; Cincinnati Children's Hospital Medical Center; Cincinnati Ohio

2. Department of Pediatrics; Division of Rheumatology; Cincinnati Children's Hospital Medical Center; Cincinnati Ohio

3. Department of Human Genetics; University of Chicago; Chicago Illinois

4. Department of Genetics; Istanbul University; Cerrahpasa School of Medicine; Istanbul Turkey

5. Department of Otorhinolaryngology; Istanbul Medeniyet University; Goztepe Research and Training Hospital; Istanbul Turkey

6. Department of Pediatrics; Division of Genetics; AI Dupont Hospital for Children; Wilmington Delaware

7. Department of Pediatrics; Section of Genetics; University of California; Davis Sacramento California

Publisher

Wiley

Subject

Genetics(clinical),Genetics

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1002/ajmg.a.36390/fullpdf

Reference30 articles.

1. Keutel syndrome in a patient presenting with hearing loss;Acar;B-ENT,2010

2. Pediatric-onset relapsing polychondritis: Case series and systematic review;Belot;J Pediatr,2010

3. Matrix GLA protein modulates differentiation induced by bone morphogenetic protein-2 in C3H10T1/2 cells;Bostrom;J Biol Chem,2001

4. X-linked recessive chondrodysplasia punctata: Spectrum of arylsulfatase E gene mutations and expanded clinical variability;Brunetti-Pierri;Am J Med Genet Part A,2003

5. X-linked brachytelephalangic chondrodysplasia punctata: A simple trait that is not so simple;Casarin;Am J Med Genet Part A,2009

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