Heterozygous IGFALS gene variants in idiopathic short stature and normal children: Impact on height and the IGF system

Hormone Research in Paediatrics

Volumn 80, Issue 6, 2014, Pages 413-423

  Domené, Horacio M ^a   Scaglia, Paula A ^a   Martínez, Alicia S ^a   Keselman, Ana C ^a   Karabatas, Liliana M ^a   Pipman, Viviana R ^b   Bengolea, Sonia V ^c   Guida, María C ^a   Ropelato, María G ^a   Ballerini, María G ^a   Lescano, Eva M ^d   Blanco, Miguel A ^e   Heinrich, Juan J ^a   Rey, Rodolfo A ^a   Jasper, Héctor G ^a  

^a HOSPITAL DE NIÑOS RICARDO GUTIÉRREZ   (Argentina)

^b Tornu Hospital   (Argentina)

^c HOSPITAL JUAN A FERNÁNDEZ   (Argentina)

^d San Fernando Del Valle de Catamarca   (Argentina)

^e UNIVERSIDAD AUSTRAL   (Argentina)

Author keywords

Acid labile subunit; Genetic endocrine disorders; Idiopathic short stature; IGF 1; IGFALS gene; IGFBP 3

Indexed keywords

RINFABATE; SOMATOMEDIN BINDING PROTEIN 3; SOMATOMEDIN C;

ADOLESCENT; ARTICLE; CHILD; CHILDHOOD DISEASE; COMPLEX FORMATION; CONTROLLED STUDY; FEMALE; FIRST DEGREE RELATIVE; FRAMESHIFT MUTATION; GENE; GENE FREQUENCY; GENE MUTATION; GENE SEQUENCE; GENETIC VARIABILITY; HAPLOINSUFFICIENCY; HETEROZYGOTE; HUMAN; IDIOPATHIC DISEASE; IDIOPATHIC SHORT STATURE; IGFALS GENE; MAJOR CLINICAL STUDY; MALE; POINT MUTATION; PRESCHOOL CHILD; PRIORITY JOURNAL; SCHOOL CHILD; SHORT STATURE; SINGLE NUCLEOTIDE POLYMORPHISM; WILD TYPE; BODY HEIGHT; BODY MASS; COMPARATIVE STUDY; GEL PERMEATION CHROMATOGRAPHY; SEX RATIO; TERNARY COMPLEX FORMATION;

ADOLESCENT; BODY HEIGHT; CARRIER PROTEINS; CASE-CONTROL STUDIES; CHILD; CHILD, PRESCHOOL; FEMALE; FRAMESHIFT MUTATION; GLYCOPROTEINS; GROWTH DISORDERS; HETEROZYGOTE; HUMANS; INSULIN-LIKE GROWTH FACTOR BINDING PROTEIN 3; INSULIN-LIKE GROWTH FACTOR I; MALE; POLYMORPHISM, SINGLE NUCLEOTIDE; SIGNAL TRANSDUCTION;

EID: 84893058033     PISSN: 16632818     EISSN: 16632826     Source Type: Journal    
DOI: 10.1159/000355412     Document Type: Article

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