Rare CNVs provide novel insights into the molecular basis of GH and IGF-1 insensitivity.
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Prenatal diagnosis of Proteus syndrome: Diagnosis of an AKT1 mutation from amniocytes.
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Severe growth failure associated with a novel heterozygous nonsense mutation in the GHR transmembrane domain leading to elevated growth hormone binding protein.
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Clinical Endocrinology.
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Anthropometric and biochemical correlates of PAPP-A2, free IGF-I, and IGFBP-3 in childhood.
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European Journal of Endocrinology.
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Targeted Searches of the Electronic Health Record and Genomics Identify an Etiology in Three Patients with Short Stature and High IGF-I Levels.
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A novel homozygous mutation of the acid-labile subunit (IGFALS) gene in a male adolescent.
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Low IGF-I Bioavailability Impairs Growth and Glucose Metabolism in a Mouse Model of Human PAPPA2 p.Ala1033Val Mutation.
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Laron syndrome related to homozygous growth hormone receptor c.784 > C mutation in a patient with hypoplastic pulmonary arteries.
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South African Medical Journal.
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De Novo and Inherited Pathogenic Variants in KDM3B Cause Intellectual Disability, Short Stature, and Facial Dysmorphism.
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Nonclassical GH Insensitivity: Characterization of Mild Abnormalities of GH Action.
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