A rasopathy phenotype with severe congenital hypertrophic obstructive cardiomyopathy associated with a PTPN11 mutation and a novel variant in SOS1.

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Bibliographic Details
Title: A rasopathy phenotype with severe congenital hypertrophic obstructive cardiomyopathy associated with a PTPN11 mutation and a novel variant in SOS1.
Authors: Fahrner JA; McKusick-Nathans Institute of Genetic Medicine, Department of Pediatrics, Johns Hopkins University School of Medicine, Baltimore, Maryland 21287, USA. jfahrne1@jhmi.edu, Frazier A, Bachir S, Walsh MF, Applegate CD, Thompson R, Halushka MK, Murphy AM, Gunay-Aygun M
Source: American journal of medical genetics. Part A [Am J Med Genet A] 2012 Jun; Vol. 158A (6), pp. 1414-21. Date of Electronic Publication: 2012 May 14.
Publication Type: Case Reports; Journal Article
Journal Info: Publisher: Wiley-Blackwell Country of Publication: United States NLM ID: 101235741 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1552-4833 (Electronic) Linking ISSN: 15524825 NLM ISO Abbreviation: Am J Med Genet A Subsets: MEDLINE
Database: MEDLINE Ultimate
Description
ISSN:1552-4833
DOI:10.1002/ajmg.a.35363