Homozygous <i>HESX1</i> and <i>COL1A1</i> Gene Variants in a Boy with Growth Hormone Deficiency and Early Onset Osteoporosis

Homozygous <i>HESX1</i> and <i>COL1A1</i> Gene Variants in a Boy with Growth Hormone Deficiency and Early Onset Osteoporosis

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 <i>HESX1</i> (Q6H) and <i>COL...

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Bibliographic Details
Main Authors: Viola Alesi, Maria Lisa Dentici, Silvia Genovese, Sara Loddo, Emanuele Bellacchio, Valeria Orlando, Silvia Di Tommaso, Giorgia Catino, Chiara Calacci, Giusy Calvieri, Daniele Pompili, Graziamaria Ubertini, Bruno Dallapiccola, Rossella Capolino, Antonio Novelli
Format: Article
Language:English
Published: MDPI AG 2021-01-01
Series:International Journal of Molecular Sciences
Subjects:
<i>HESX1</i>
Q6H
<i>COL1A1</i>
E1361K
osteoporosis
combined pituitary hormone deficiency
Online Access:https://www.mdpi.com/1422-0067/22/2/750

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https://www.mdpi.com/1422-0067/22/2/750

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