A 23-year follow-up of a male with Hajdu-Cheney syndrome due to NOTCH2 mutation-Reference-Cited by-同舟云学术

A 23-year follow-up of a male with Hajdu-Cheney syndrome due to NOTCH2 mutation

Published:2018-10-17 Issue:11 Volume:176 Page:2382-2388
ISSN:1552-4825
Container-title:American Journal of Medical Genetics Part A
language:en
Short-container-title:Am J Med Genet

Author:

Midro Alina T.¹^ORCID,Stasiewicz-Jarocka Beata¹,Borys Jan²,Kozłowski Kazimierz³,Skotnicka Bożena⁴,Tarasów Eugeniusz⁵,Hubert Ewa²,Konstantynowicz Jerzy⁶,Panasiuk Barbara¹,Rydzanicz Małgorzata⁷,Pollak Agnieszka⁸,Stawiński Piotr⁸,Skowroński Rafał⁹,Płoski Rafał⁷^ORCID

Affiliation:

1. Department of Clinical Genetics; Medical University; Bialystok Poland

2. Clinic of Maxillo-Facial Surgery; Medical University; Bialystok Poland

3. Department of Medical Imaging; The Children's Hospital at Westmead; Sydney New South Wales Australia

4. Department of Pediatric Otolaryngology; Medical University; Bialystok Poland

5. Department of Radiology; Medical University; Bialystok Poland

6. Department of Pediatrics, Rheumatology, Immunology and Metabolic Bone Diseases; Medical University; Bialystok Poland

7. Department of Medical Genetics; Medical University; Warsaw Poland

8. World Hearing Center; Institute of Physiology and Pathology of Hearing; Warsaw Poland

9. Department of Orthopaedics and Traumatology; Medical University; Bialystok Poland

Funder

Narodowe Centrum Nauki

Medical University in Bialystok

Publisher

Wiley

Subject

Genetics(clinical),Genetics

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1002/ajmg.a.40431/fullpdf

Reference11 articles.

1. Hajdu-Cheney syndrome: Evolution of phenotype and clinical problems;Brennan;American Journal of Medical Genetics,2001

2. Hajdu-Cheney syndrome: Phenotypical progression with de-novo NOTCH2 mutation;Descartes;Clinical Dysmorphology,2014

3. Integrating consultation and semi-automatic knowledge acquisition in a prototype-based architecture: Experiences with dysmorphic syndromes;Gierl;Artificial Intelligence in Medicine Journal,1994

4. Truncating mutations in the last exon of NOTCH2 cause a rare skeletal disorder with osteoporosis;Isidor;Nature Genetics,2011

5. The human phenotype ontology in 2017;Köhler;Nucleic Acids Research,2017

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1. Fracture healing in a mouse model of Hajdu–Cheney-Syndrome with high turnover osteopenia results in decreased biomechanical stability;Scientific Reports;2023-07-14

2. Oral Surgery Procedures in a Patient with Hajdu-Cheney Syndrome Treated with Denosumab—A Rare Case Report;International Journal of Environmental Research and Public Health;2021-08-28

3. Hajdu Cheney Syndrome due to NOTCH2 defect – First case report from Pakistan and review of literature;Annals of Medicine and Surgery;2021-02