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Article

Short stature with low insulin-like growth factor 1 availability due to pregnancy-associated plasma protein A2 deficiency in a Saudi family.

Clinical genetics - 1 Nov 2021

Babiker Amir, Al Noaim Khalid, Al Swaid Abdulrahman, Alfadhel Majid, Deeb Asma, Martín-Rivada Álvaro, Barrios Vicente, Pérez-Jurado Luis A, Alfares Ahmed, Al Alwan Ibrahim, Argente Jesús

Abstract excerpt

In 2016 a new syndrome with postnatal short stature and low IGF1 bioavailability caused by biallelic loss-of-function mutations in the gene encoding the metalloproteinase pregnancy-associated plasma protein A2 (PAPP-A2) was described in two families. Here we report two siblings of a third family from Saudi Arabia with postnatal growth retardation and decreased IGF1 availability due to a new homozygous nonsense...

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PMID: 34272725
DOI: 10.1111/cge.14030

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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Short stature with low insulin-like growth factor 1 availability due to pregnancy-associated plasma protein A2 deficiency in a Saudi family.PMID 34272725Read ↗

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Pregnancy-Associated Plasma Protein (PAPP)-A2 in Physiology and Disease.Semantic proximity Read ↗

Novel Modulators of the Growth Hormone - Insulin-Like Growth Factor Axis: Pregnancy-Associated Plasma Protein-A2 and Stanniocalcin-2Semantic proximity Read ↗

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Low IGF-I Bioavailability Impairs Growth and Glucose Metabolism in a Mouse Model of Human PAPPA2 p.Ala1033Val MutationSemantic proximity Read ↗

Letter to the Editor: History and clinical implications of PAPP-A2 in human growth: When reflecting on idiopathic short stature leads to a specific and new diagnosis: Understanding the concept of "low IGF-I availability".Semantic proximity Read ↗

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