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Article

Homozygous HESX1 and COL1A1 Gene Variants in a Boy with Growth Hormone Deficiency and Early Onset Osteoporosis.

International journal of molecular sciences - 13 Jan 2021

Alesi Viola, Dentici Maria Lisa, Genovese Silvia, Loddo Sara, Bellacchio Emanuele, Orlando Valeria, Di Tommaso Silvia, Catino Giorgia, Calacci Chiara, Calvieri Giusy, Pompili Daniele, Ubertini Graziamaria, Dallapiccola Bruno, Capolino Rossella, Novelli Antonio

Abstract excerpt

We report on a patient born to consanguineous parents, presenting with Growth Hormone Deficiency (GHD) and osteoporosis. SNP-array analysis and exome sequencing disclosed long contiguous stretches of homozygosity and two distinct homozygous variants in HESX1 (Q6H) and COL1A1 (E1361K) genes. The HESX1 variant was described as causative in a few subjects with an incompletely penetrant dominant form of combined...

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Identifiers

PMID: 33451138
DOI: 10.3390/ijms22020750
PMCID: PMC7828579

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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