A novel mutation in IGFALS, c.380T>C (p.L127P), associated with short stature, delayed puberty, osteopenia and hyperinsulinaemia in two siblings: Insights into the roles of insulin growth factor-1 (IGF1)

Clinical Endocrinology

Volumn 79, Issue 6, 2013, Pages 838-844

  Hess, Ora ^a   Khayat, Morad ^a   Hwa, Vivian ^b   Heath, Karen E ^c   Teitler, Amnon ^a   Hritan, Yifat ^a   Allon Shalev, Stavit ^a   Tenenbaum Rakover, Yardena ^a,d  

^a HAEMEK MEDICAL CENTER   (Israel)

^b OREGON HEALTH AND SCIENCE UNIVERSITY   (United States)

^c HOSPITAL UNIVERSITARIO LA PAZ IDIPAZ   (Spain)

^d TECHNION ISRAEL INSTITUTE OF TECHNOLOGY   (Israel)

Author keywords

[No Author keywords available]

Indexed keywords

GROWTH HORMONE; SOMATOMEDIN BINDING PROTEIN 3; SOMATOMEDIN C; CARRIER PROTEIN; GLYCOPROTEIN; INSULIN-LIKE GROWTH FACTOR BINDING PROTEIN, ACID LABILE SUBUNIT;

ADOLESCENT; ARTICLE; CHILD; DELAYED PUBERTY; ENZYME LINKED IMMUNOSORBENT ASSAY; FEMALE; GENE; GENE MUTATION; HUMAN; HYPERINSULINEMIA; IGFALS GENE; INFANT; MAJOR CLINICAL STUDY; MALE; OSTEOPENIA; PHENOTYPE; PRESCHOOL CHILD; PRIORITY JOURNAL; SCHOOL CHILD; SHORT STATURE; SIBLING; AMINO ACID SUBSTITUTION; CASE REPORT; COHORT ANALYSIS; CONSANGUINITY; GENETICS; HOMOZYGOTE; HYPERINSULINISM; METABOLIC BONE DISEASE; MISSENSE MUTATION; PHYSIOLOGY; PITUITARY DWARFISM; SYNDROME;

ADOLESCENT; AMINO ACID SUBSTITUTION; BONE DISEASES, METABOLIC; CARRIER PROTEINS; CHILD; CHILD, PRESCHOOL; COHORT STUDIES; CONSANGUINITY; DWARFISM, PITUITARY; FEMALE; GLYCOPROTEINS; HOMOZYGOTE; HUMANS; HYPERINSULINISM; INFANT; INSULIN-LIKE GROWTH FACTOR I; MALE; MUTATION, MISSENSE; PUBERTY, DELAYED; SIBLINGS; SYNDROME;

EID: 84887419181     PISSN: 03000664     EISSN: 13652265     Source Type: Journal    
DOI: 10.1111/cen.12200     Document Type: Article

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