A novel rasopathy caused by recurrent de novo missense mutations inPPP1CBclosely resembles Noonan syndrome with loose anagen hair-Reference-Cited by-同舟云学术

A novel rasopathy caused by recurrent de novo missense mutations inPPP1CBclosely resembles Noonan syndrome with loose anagen hair

Published:2016-06-05 Issue:9 Volume:170 Page:2237-2247
ISSN:1552-4825
Container-title:American Journal of Medical Genetics Part A
language:en
Short-container-title:Am. J. Med. Genet.

Author:

Gripp Karen W.¹,Aldinger Kimberly A.²,Bennett James T.²³,Baker Laura¹,Tusi Jessica¹,Powell-Hamilton Nina¹,Stabley Deborah⁴,Sol-Church Katia⁴,Timms Andrew E.⁵,Dobyns William B.²

Affiliation:

1. Division of Medical Genetics; A. I. duPont Hospital for Children; Wilmington Delaware

2. Center for Integrative Brain Research; Seattle Children's Research Institute; Seattle Washington

3. Department of Pediatrics; University of Washington; Seattle Washington

4. Center for Applied Clinical Genomics; A. I. duPont Hospital for Children; Wilmington Delaware

5. Center for Developmental Biology and Regenerative Medicine; Seattle Children's Research Institute; Seattle Washington

Funder

National Institute of General Medical Sciences

National Institute of Neurological Disorders and Stroke (NINDS)

Seattle Children's Research Institute

Burroughs Wellcome Fund Career Award for Medical Scientists

Dandy-Walker Alliance

Publisher

Wiley

Subject

Genetics (clinical),Genetics

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3. Phenotypic variability associated with the invariant SHOC2 c.4A>G (p.Ser2Gly) missense mutation;Baldassarre;Am J Med Genet A,2014

4. Leopard syndrome and Chiari type I malformation: A case report and review of the literature;Beier;Neurologist,2009

5. Mutation of SHOC2 promotes aberrant protein N-myristolation and causes Noonan-like syndrome with loose anagen hair;Cordeddu;Nat Genet,2009

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