Phenotypic and genotypic characterisation of Noonan-like/multiple giant cell lesion syndrome.

Journal of medical genetics

Volumn 42, Issue 2, 2005, Pages

  Lee, J S ^a   Tartaglia, M ^a   Gelb, B D ^a   Fridrich, K ^a   Sachs, S ^a   Stratakis, C A ^a   Muenke, M ^a   Robey, P G ^a   Collins, M T ^a   Slavotinek, A ^a  

^a NONE

Author keywords

[No Author keywords available]

Indexed keywords

PROTEIN TYROSINE PHOSPHATASE; SH3BP2 PROTEIN, HUMAN; SIGNAL PEPTIDE; SIGNAL TRANSDUCING ADAPTOR PROTEIN; SRC HOMOLOGY 2 (SH2) DOMAIN CONTAINING PHOSPHATASES; SRC HOMOLOGY-2 (SH2) DOMAIN-CONTAINING PHOSPHATASES;

ADOLESCENT; CASE REPORT; CHILD; FEMALE; FIBROUS DYSPLASIA; GENETICS; GENOTYPE; GIANT CELL; HUMAN; LETTER; MALE; MISSENSE MUTATION; NOONAN SYNDROME; NUCLEOTIDE SEQUENCE; PATHOLOGY; PHENOTYPE;

ADAPTOR PROTEINS, SIGNAL TRANSDUCING; ADOLESCENT; CHERUBISM; CHILD; DNA MUTATIONAL ANALYSIS; FEMALE; GENOTYPE; GIANT CELLS; HUMANS; INTRACELLULAR SIGNALING PEPTIDES AND PROTEINS; MALE; MUTATION, MISSENSE; NOONAN SYNDROME; PHENOTYPE; PROTEIN-TYROSINE-PHOSPHATASE;

EID: 18844428291     PISSN: None     EISSN: 14686244     Source Type: Journal    
DOI: 10.1136/jmg.2004.024091     Document Type: Letter

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