Genotype and phenotype in patients with Noonan syndrome and a RIT1 mutation

Genetics in Medicine

Volumn 18, Issue 12, 2016, Pages 1226-1234

  Kouz, Karim ^a   Lissewski, Christina ^b   Spranger, Stephanie ^c   Mitter, Diana ^d   Riess, Angelika ^e   Lopez Gonzalez, Vanesa ^f,g   Lüttgen, Sabine ^a   Aydin, Hatip ^h   Von Deimling, Florian ⁱ   Evers, Christina ^j   Hahn, Andreas ^k   Hempel, Maja ^a   Issa, Ulrike ^l   Kahlert, Anne Karin ^m,n   Lieb, Adrian ^o   Villavicencio Lorini, Pablo ^l   Ballesta Martinez, Maria Juliana ^f,g   Nampoothiri, Sheela ^p   Ovens Raeder, Angela ^q   Puchmajerová, Alena ^r   Satanovskij, Robin ^s   Seidel, Heide ^t   Unkelbach, Stephan ^u   Zabel, Bernhard ^b,v   Kutsche, Kerstin ^a   Zenker, Martin ^b   more..

^a UNIVERSITY MEDICAL CENTER HAMBURG EPPENDORF   (Germany)

^b UNIVERSITY HOSPITAL MAGDEBURG   (Germany)

^c Praxis fuer Humangenetik   (Germany)

^d UNIVERSITY HOSPITAL LEIPZIG   (Germany)

^e UNIVERSITY OF TÜBINGEN   (Germany)

^f HOSPITAL UNIVERSITARIO VIRGEN DE LA ARRIXACA   (Spain)

^g CENTRO DE INVESTIGACIÓN BIOMÉDICA EN RED DE ENFERMEDADES RARAS CIBERER   (Spain)

^h NAMIK KEMAL UNIVERSITY   (Turkey)

ⁱ Sozialpädiatrisches Zentrum Coburg   (Germany)

^j UNIVERSITY OF HEIDELBERG   (Germany)

^k JUSTUS LIEBIG UNIVERSITY   (Germany)

^l MARTIN LUTHER UNIVERSITY HALLE WITTENBERG   (Germany)

^m DRESDEN UNIVERSITY OF TECHNOLOGY   (Germany)

ⁿ UNIVERSITY HOSPITAL SCHLESWIG HOLSTEIN   (Germany)

^o UNIVERSITY HOSPITAL FRANKFURT   (Germany)

^p AMRITA INSTITUTE OF MEDICAL SCIENCES   (India)

^q Praxis für Humangenetik   (Germany)

^r UNIVERSITY HOSPITAL MOTOL   (Czech Republic)

^s TECHNICAL UNIVERSITY OF MUNICH   (Germany)

^t UNIVERSITY OF MUNICH   (Germany)

^u Dres Vierling and Schneider   (Germany)

^v UNIVERSITY OF FREIBURG   (Germany)

more..

Author keywords

hypertrophic cardiomyopathy; Noonan syndrome; oncogenic mutations; RAS MAPK signaling pathway; RASopathies

Indexed keywords

ADOLESCENT; ADULT; ARTICLE; CHILD; CLINICAL ARTICLE; CLINICAL FEATURE; CODON; FEMALE; GENE; GENE MUTATION; GENETIC ASSOCIATION; GENETIC VARIABILITY; GENOTYPE PHENOTYPE CORRELATION; GERMLINE MUTATION; HUMAN; HYPERTROPHIC CARDIOMYOPATHY; INFANT; LYMPHATIC SYSTEM DISEASE; MALE; MIDDLE AGED; MISSENSE MUTATION; NOONAN SYNDROME; PRESCHOOL CHILD; RIT1 GENE; SCHOOL CHILD; CONGENITAL HEART MALFORMATION; GENETIC ASSOCIATION STUDY; GENETICS; GENOTYPE; PATHOLOGY; PEDIGREE; PHENOTYPE;

RAS PROTEIN; RIT1 PROTEIN, HUMAN;

CARDIOMYOPATHY, HYPERTROPHIC; FEMALE; GENETIC ASSOCIATION STUDIES; GENOTYPE; GERM-LINE MUTATION; HEART DEFECTS, CONGENITAL; HUMANS; MALE; NOONAN SYNDROME; PEDIGREE; PHENOTYPE; RAS PROTEINS;

EID: 85000839255     PISSN: 10983600     EISSN: 15300366     Source Type: Journal    
DOI: 10.1038/gim.2016.32     Document Type: Article

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