A respiratory/Hirschsprung phenotype in a three‐generation family associated with a novel pathogenic PHOX2B splice donor mutation-Reference-Cited by-同舟云学术

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A respiratory/Hirschsprung phenotype in a three‐generation family associated with a novel pathogenic PHOX2B splice donor mutation

Published:2020-10-13 Issue:12 Volume:8 Page:
ISSN:2324-9269
Container-title:Molecular Genetics & Genomic Medicine
language:en
Short-container-title:Mol. Genet. Genomic Med.

Author:

Pace Nikolai Paul¹^ORCID,Pace Bardon Michael²,Borg Isabella¹³⁴

Affiliation:

1. Centre for Molecular Medicine and Biobanking Faculty of Medicine and Surgery University of Malta Msida Malta

2. Department of Medicine Mater Dei Hospital Msida Malta

3. Medical Genetics Unit Department of Pathology Mater Dei Hospital Msida Malta

4. Department of Pathology Faculty of Medicine and Surgery University of Malta Msida Malta

Publisher

Wiley

Subject

Genetics (clinical),Genetics,Molecular Biology

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/mgg3.1528

Reference30 articles.

1. Polyalanine expansion and frameshift mutations of the paired-like homeobox gene PHOX2B in congenital central hypoventilation syndrome

2. Presentation and treatment of monozygotic twins with congenital central hypoventilation syndrome;Amin R.;Canadian Respiratory Journal: Journal of the Canadian Thoracic Society,2011

3. Splicing mutations in human genetic disorders: examples, detection, and confirmation

4. PHOX2BMutation–confirmed Congenital Central Hypoventilation Syndrome

5. Interaction between a chromosome 10RETenhancer and chromosome 21 in the Down syndrome-Hirschsprung disease association

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1. Genetic identification of medullary neurons underlying congenital hypoventilation;Science Advances;2024-06-21

2. Congenital Central Hypoventilation Syndrome in Israel—Novel Findings from a New National Center;Journal of Clinical Medicine;2023-06-11

3. Genetic identification of novel medullary neurons underlying congenital central hypoventilation syndrome;2023-05-30

4. Comprehensive characterization of the genetic landscape of familial Hirschsprung’s disease;World Journal of Pediatrics;2023-03-01

5. Transitional care and clinical management of adolescents, young adults, and suspected new adult patients with congenital central hypoventilation syndrome;Clinical Autonomic Research;2022-11-20

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