Clinical and functional characterization of a patient carrying a compound heterozygous pericentrin mutation and a heterozygous IGF1 receptor mutation

PLoS ONE

Volumn 7, Issue 5, 2012, Pages

  Müller, Eva ^a   Dunstheimer, Desiree ^c   Klammt, Jürgen ^a   Friebe, Daniela ^a   Kiess, Wieland ^a   Kratzsch, Jürgen ^b   Kruis, Tassilo ^a   Laue, Sandy ^a   Pfäffle, Roland ^a   Wallborn, Tillmann ^a   Heidemann, Peter H ^c  

^a UNIVERSITY HOSPITAL LEIPZIG   (Germany)

^b Institute of Laboratory Medicine   (Germany)

^c KLINIKUM AUGSBURG   (Germany)

Author keywords

[No Author keywords available]

Indexed keywords

ARGININE; GLUTAMIC ACID; GROWTH HORMONE; LEUCINE; PERICENTRIN; SOMATOMEDIN C; ANTIGEN; MITOGEN ACTIVATED PROTEIN KINASE; PROTEIN KINASE B; SOMATOMEDIN C RECEPTOR;

AMINO ACID SUBSTITUTION; ARTICLE; BONE DYSPLASIA; CASE REPORT; CELL PROLIFERATION; CHILD; DISEASE SEVERITY; DWARFISM; ENDOCRINE GROWTH AND DEVELOPMENT DISORDERS; FEMALE; GENE MUTATION; GENETIC ANALYSIS; GROWTH HORMONE SECRETING CELL; GROWTH RETARDATION; HETEROZYGOSITY; HUMAN; IGF1R GENE; MICROCEPHALIC OSTEODYSPLASTIC PRIMORDIAL DWARFISM TYPE II; MICROCEPHALY; MOYAMOYA DISEASE; MUTATIONAL ANALYSIS; NUCLEOTIDE SEQUENCE; PERICENTRIN GENE; PERINATAL PERIOD; PHENOTYPE; PRESCHOOL CHILD; SCHOOL CHILD; SIGNAL TRANSDUCTION; SMALL FOR DATE INFANT; ADOLESCENT; BONE; GENETICS; HETEROZYGOTE; INFANT; METABOLISM; MUTATION; NEUROIMAGING; NEWBORN; PHOSPHORYLATION; RADIOGRAPHY;

ADOLESCENT; ANTIGENS; BONE AND BONES; CHILD; CHILD, PRESCHOOL; EXTRACELLULAR SIGNAL-REGULATED MAP KINASES; FEMALE; HETEROZYGOTE; HUMANS; INFANT; INFANT, NEWBORN; MITOGEN-ACTIVATED PROTEIN KINASES; MUTATION; NEUROIMAGING; PHENOTYPE; PHOSPHORYLATION; PROTO-ONCOGENE PROTEINS C-AKT; RECEPTOR, IGF TYPE 1;

EID: 84872751759     PISSN: None     EISSN: 19326203     Source Type: Journal    
DOI: 10.1371/journal.pone.0038220     Document Type: Article

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