<scp>HIDEA</scp> syndrome is caused by biallelic, pathogenic, rare or founder <i>P4HTM</i> variants impacting the active site or the overall stability of the <scp>P4H‐TM</scp> protein-Reference-Cited by-同舟云学术

HIDEA syndrome is caused by biallelic, pathogenic, rare or founder P4HTM variants impacting the active site or the overall stability of the P4H‐TM protein

Published:2022-08-19 Issue:5 Volume:102 Page:444-450
ISSN:0009-9163
Container-title:Clinical Genetics
language:en
Short-container-title:Clinical Genetics

Author:

Kraatari‐Tiri Minna¹²^ORCID,Soikkonen Leila¹²^ORCID,Myllykoski Matti³^ORCID,Jamshidi Yalda⁴^ORCID,Karimiani Ehsan G.⁴⁵,Komulainen‐Ebrahim Jonna¹⁶,Kallankari Hanna¹⁶,Mignot Cyril⁷,Depienne Christel⁸,Keren Boris⁸,Nougues Marie‐Christine⁹,Alsahlawi Zahra¹⁰^ORCID,Romito Antonio¹¹,Martini Javier¹¹,Toosi Mehran B.¹²,Carroll Christopher J.⁴,Tripolszki Kornelia¹¹,Bauer Peter¹¹^ORCID,Uusimaa Johanna¹⁶,Bertoli‐Avella Aida M.¹¹^ORCID,Koivunen Peppi¹³¹⁴^ORCID,Rahikkala Elisa¹²^ORCID

Affiliation:

1. PEDEGO Research Unit University of Oulu Oulu Finland

2. Department of Clinical Genetics and Medical Research Center Oulu University Hospital Oulu Finland

3. Department of Biomedicine University of Bergen Bergen Norway

4. Genetics Section Molecular and Clinical Sciences Research Institute, St. George's, University of London London UK

5. Department of Genetics Next Generation Polyclinic Mashhad Iran

6. Department of Children and Adolescents and Medical Research Center Oulu University Hospital Oulu Finland

7. APHP.Sorbonne Université, Département de Génétique, Hôpital Armand Trousseau and Groupe Hospitalier Pitié‐Salpêtrière Centre de Référence Déficiences Intellectuelles de Causes Rares Paris France

8. Département de Génétique, Groupe Hospitalier Pitié‐Salpêtrière APHP.Sorbonne Université Paris France

9. Département de Neuropédiatrie APHP.Sorbonne Université, Hôpital Trousseau Trousseau France

10. Department of Pediatrics Salmaniya Medical Complex Kingdom of Bahrain Bahrain

11. Department of Medical Reporting and Genomics Centogene GmbH Rostock Germany

12. Department of Pediatrics School of medicine, Mashhad University of Medical Sciences Mashhad Iran

13. Biocenter Oulu University of Oulu Oulu Finland

14. Faculty of Biochemistry and Molecular Medicine Oulu Centre for Cell‐Matrix Research, University of Oulu Oulu Finland

Funder

Academy of Finland

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1111/cge.14203

Reference12 articles.

1. Clinical characterization, genetic mapping and whole-genome sequence analysis of a novel autosomal recessive intellectual disability syndrome

2. Oxygen Sensing by Metazoans: The Central Role of the HIF Hydroxylase Pathway

3. Further delineation of HIDEA syndrome

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