IGF1, IGF1R and SHOX mutation analysis in short children born small for gestational age and short children with normal birth size (idiopathic short stature)

Hormone Research in Paediatrics

Volumn 77, Issue 4, 2012, Pages 250-260

  Caliebe, Janina ^a   Broekman, Sander ^b   Boogaard, Merel ^b   Bosch, Cathy A J ^b   Ruivenkamp, Claudia A L ^b   Oostdijk, Wilma ^c   Kant, S G ^b   Binder, Gerhard ^a   Ranke, Michael B ^a   Wit, Jan M ^c   Losekoot, Monique ^b  

^a UNIVERSITY HOSPITAL TÜBINGEN   (Germany)

^b Center for Human and Clinical Genetics   (Netherlands)

^c LEIDEN UNIVERSITY MEDICAL CENTER   (Netherlands)

Author keywords

Diagnosis; Growth; Idiopathic short stature; IGF1; IGF1R; Pseudoautosomal region; Short stature; SHOX; Small for gestational age; STS

Indexed keywords

SOMATOMEDIN C; SOMATOMEDIN C RECEPTOR; STERYL SULFATASE;

ARTICLE; CHILD; CONTROLLED STUDY; FEMALE; GENE DELETION; GENE MUTATION; GENE SEQUENCE; GENETIC ANALYSIS; GENETIC SCREENING; HOMEOBOX; HUMAN; MAJOR CLINICAL STUDY; MALE; MULTIPLEX LIGATION DEPENDENT PROBE AMPLIFICATION; PRIORITY JOURNAL; SCHOOL CHILD; SHORT STATURE; SHORT STATURE HOMEOBOX CONTAINING GENE; SINGLE NUCLEOTIDE POLYMORPHISM; SMALL FOR DATE INFANT;

COHORT STUDIES; FEMALE; FETAL GROWTH RETARDATION; GENE DUPLICATION; GENETIC ASSOCIATION STUDIES; GERMANY; GROWTH DISORDERS; HOMEODOMAIN PROTEINS; HUMANS; ICHTHYOSIS, X-LINKED; INFANT, NEWBORN; INFANT, SMALL FOR GESTATIONAL AGE; INSULIN-LIKE GROWTH FACTOR I; MALE; MUTATION; POLYMORPHISM, SINGLE NUCLEOTIDE; PSEUDOGENES; RECEPTOR, IGF TYPE 1; SEQUENCE DELETION;

EID: 84860868965     PISSN: 16632818     EISSN: 16632826     Source Type: Journal    
DOI: 10.1159/000338341     Document Type: Article

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