Expanding the SHOC2 mutation associated phenotype of noonan syndrome with loose anagen hair: Structural brain anomalies and myelofibrosis期刊界 All Journals 搜尽天下杂志传播学术成果专业期刊搜索期刊信息化学术搜索

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

Authors:	Karen W. Gripp Dina J. Zand Laurie Demmer Carol E. Anderson William B. Dobyns Elaine H. Zackai Elizabeth Denenberg Kim Jenny Deborah L. Stabley Katia Sol‐Church

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

Abstract:

Keywords:	Chiari 1 malformation heterotopia rasopathy Noonan syndrome with loose anagen hair SHOC2 malignancy myelofibrosis