Three novel IGF1R mutations in microcephalic patients with prenatal and postnatal growth impairment

Clinical Endocrinology

Volumn 82, Issue 5, 2015, Pages 704-711

  Juanes, Matias ^a   Guercio, Gabriela ^a   Marino, Roxana ^a   Berensztein, Esperanza ^a   Warman, Diana Mõnica ^a   Ciaccio, Marta ^a   Gil, Silvia ^a   Bailez, Marcela ^a   Rivarola, Marco A ^a   Belgorosky, Alicia ^a  

^a HOSPITAL DE PEDIATRÍA PROF DR JUAN P GARRAHAN   (Argentina)

Author keywords

[No Author keywords available]

Indexed keywords

GROWTH HORMONE; PHOSPHATIDYLINOSITOL 3 KINASE; PROTEIN KINASE B; SOMATOMEDIN C; DNA; HUMAN GROWTH HORMONE; IGF1R PROTEIN, HUMAN; SOMATOMEDIN RECEPTOR;

ARTICLE; CHILD; CLINICAL ARTICLE; DNA FLANKING REGION; FEMALE; FIBROBLAST; GENE AMPLIFICATION; GENE MUTATION; GENE SEQUENCE; GENETIC VARIABILITY; GROWTH RETARDATION; HUMAN; MALE; MICROCEPHALY; MISSENSE MUTATION; PRENATAL GROWTH; PRIORITY JOURNAL; PROTEIN PHOSPHORYLATION; SEQUENCE ANALYSIS; ADULT; ARGENTINA; BIOPSY; COHORT ANALYSIS; GENETICS; GROWTH DISORDER; HETEROZYGOTE; INFANT; INTRAUTERINE GROWTH RETARDATION; INTRON; METABOLISM; MUTATION; NUCLEOTIDE SEQUENCE; PHOSPHORYLATION; PRESCHOOL CHILD;

ADULT; ARGENTINA; BIOPSY; CHILD; CHILD, PRESCHOOL; COHORT STUDIES; DNA; DNA MUTATIONAL ANALYSIS; FEMALE; FETAL GROWTH RETARDATION; FIBROBLASTS; GENETIC VARIATION; GROWTH DISORDERS; HETEROZYGOTE; HUMAN GROWTH HORMONE; HUMANS; INFANT; INSULIN-LIKE GROWTH FACTOR I; INTRONS; MALE; MICROCEPHALY; MUTATION; PHOSPHORYLATION; PROTO-ONCOGENE PROTEINS C-AKT; RECEPTORS, SOMATOMEDIN;

EID: 84926994928     PISSN: 03000664     EISSN: 13652265     Source Type: Journal    
DOI: 10.1111/cen.12555     Document Type: Article

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