Expanding the SHOC2 mutation associated phenotype of noonan syndrome with loose anagen hair: Structural brain anomalies and myelofibrosis-Reference-Cited by-同舟云学术

Expanding the SHOC2 mutation associated phenotype of noonan syndrome with loose anagen hair: Structural brain anomalies and myelofibrosis

Published:2013-07 Issue: Volume: Page:n/a-n/a
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,Zand Dina J.²,Demmer Laurie³,Anderson Carol E.⁴,Dobyns William B.⁵,Zackai Elaine H.⁶,Denenberg Elizabeth¹,Jenny Kim¹,Stabley Deborah L.⁷,Sol-Church Katia⁷

Affiliation:

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

2. Division of Genetics and Metabolism; Children's National Medical Center; Washington; District of Columbia

3. Division of Clinical Genetics; Levine Children's Hospital; Charlotte; North Carolina

4. Section of Clinical Genetics; St. Christopher's Hospital for Children; Philadelphia; Pennsylvania

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

6. Division of Genetics; The Children's Hospital of Philadelphia; Philadelphia; Pennsylvania

7. Department of Biomedical Research; Nemours' Children's Clinic; Wilmington; Delaware

Publisher

Wiley

Subject

Genetics(clinical),Genetics

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1002/ajmg.a.36098/fullpdf

Reference36 articles.

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2. Allanson JE Roberts AE 2011 Noonan syndrome. In: GeneReviews at GeneTests: Medical Genetics Information Resource [database online] http://www.genetests.org

3. Chiari (type 1) malformation and syringomyelia in a patient with Noonan's syndrome;Ball;J Neurol Psychiatry,1982

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

5. Noonan-like syndrome with loose anagen hair associated with growth hormone insensitivity and atypical neurological manifestations;Capalbo;Am J Med Genet Part A,2012a

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5. Case report: A de novo RASopathy-causing SHOC2 variant in a Chinese girl with noonan syndrome-like with loose anagen hair;Frontiers in Genetics;2022-12-09