SOS1: A new player in the Noonan-like/multiple giant cell lesion syndrome

Clinical Genetics

Volumn 75, Issue 6, 2009, Pages 568-571

  Hanna, Nadine ^a   Parfait, B ^a   Talaat, I M ^b   Vidaud, M ^a   Elsedfy, H H ^b  

^a INSERM   (France)

^b AIN SHAMS UNIVERSITY   (Egypt)

Author keywords

Cherubism; Noonan syndrome; Noonan like multiple giant cell lesion syndrome; SOS1

Indexed keywords

SOS PROTEIN;

AMINO ACID SUBSTITUTION; ARTICLE; BONE RADIOGRAPHY; BONE SWELLING; CAFE AU LAIT SPOT; CASE REPORT; CHILD; CLINICAL FEATURE; CODON; COMPUTER ASSISTED TOMOGRAPHY; DARIER DISEASE; DENTAL CARIES; ELBOW DISLOCATION; EXON; FIBROUS DYSPLASIA; FRONTAL BOSSING; FUNNEL CHEST; GENE MUTATION; GENE SEQUENCE; GENETIC ANALYSIS; HEPATOMEGALY; HETEROZYGOSITY; HUMAN; HYPERTELORISM; MALE; MANDIBLE; NOONAN LIKE MULTIPLE GIANT CELL LESION SYNDROME; NOONAN SYNDROME; NOSE MALFORMATION; NUCLEIC ACID BASE SUBSTITUTION; NUCLEOTIDE SEQUENCE; PALPEBRAL FISSURE ANOMALY; PHYSICAL EXAMINATION; PRIORITY JOURNAL; PULMONARY VALVE STENOSIS; SCANTY HAIR; WEBBED NECK;

ADAPTOR PROTEINS, SIGNAL TRANSDUCING; AMINO ACID SUBSTITUTION; CHERUBISM; CHILD; CHILD, PRESCHOOL; DNA; DNA MUTATIONAL ANALYSIS; GIANT CELLS; HUMANS; MALE; MANDIBLE; NOONAN SYNDROME; POINT MUTATION; PROTEIN TYROSINE PHOSPHATASE, NON-RECEPTOR TYPE 11; PULMONARY VALVE STENOSIS; SOS1 PROTEIN;

EID: 66549085060     PISSN: 00099163     EISSN: 13990004     Source Type: Journal    
DOI: 10.1111/j.1399-0004.2009.01149.x     Document Type: Article

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