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Volumn 186, Issue , 2015, Pages 13-15
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Novel mutations in PTPN11 gene in two girls with Noonan syndrome phenotype
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Author keywords
Noonan syndrome; Novel mutation; PTPN11 gene
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Indexed keywords
AUTOSOMAL DOMINANT DISORDER;
BODY HEIGHT;
BODY WEIGHT;
BRACHYDACTYLY;
CASE REPORT;
CHILD;
ECHOCARDIOGRAPHY;
EPICANTHUS;
FEMALE;
GENE;
GENE MUTATION;
GROWTH RETARDATION;
HEAD CIRCUMFERENCE;
HETEROZYGOSITY;
HUMAN;
HYDRAMNIOS;
HYPERTELORISM;
INFANT;
LETTER;
LOW SET EAR;
MISSENSE MUTATION;
MONGOLIAN SPOT;
MOTOR RETARDATION;
NOONAN SYNDROME;
PALPEBRAL FISSURE;
PHENOTYPE;
PRIORITY JOURNAL;
PTPN11 GENE;
PULMONARY VALVE STENOSIS;
SCHOOL CHILD;
WEBBED NECK;
DNA MUTATIONAL ANALYSIS;
GENETICS;
METABOLISM;
MUTATION;
DNA;
PROTEIN TYROSINE PHOSPHATASE SHP 2;
CHILD;
DNA;
DNA MUTATIONAL ANALYSIS;
FEMALE;
HUMANS;
INFANT;
MUTATION;
NOONAN SYNDROME;
PHENOTYPE;
PROTEIN TYROSINE PHOSPHATASE, NON-RECEPTOR TYPE 11;
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EID: 84929191440
PISSN: 01675273
EISSN: 18741754
Source Type: Journal
DOI: 10.1016/j.ijcard.2015.03.260 Document Type: Article |
Times cited : (7)
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References (6)
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