The genotypic and phenotypic spectrum of pycnodysostosis in Saudi Arabia: Novel variants and clinical findings-Reference-Cited by-同舟云学术

The genotypic and phenotypic spectrum of pycnodysostosis in Saudi Arabia: Novel variants and clinical findings

Published:2021-05-08 Issue:8 Volume:185 Page:2455-2463
ISSN:1552-4825
Container-title:American Journal of Medical Genetics Part A
language:en
Short-container-title:Am J Med Genet

Author:

Mushiba Aziza M.¹,FAQEIH EISSA¹,Saleh Mohammed A.¹,Ramzan Khushnooda²^ORCID,Imtiaz Faiqa²^ORCID,Al‐Owain Mohammed³⁴,Alhashem Amal M.⁴⁵^ORCID,Alswaid Abdulrahman⁶

Affiliation:

1. Section of Medical Genetics, Department of Pediatrics Children's Specialist Hospital, King Fahad Medical City Riyadh Saudi Arabia

2. Centre for Genomic Medicine King Faisal Specialist Hospital and Research Centre Riyadh Saudi Arabia

3. Department of Medical Genetics King Faisal Specialist Hospital and Research Centre Riyadh Saudi Arabia

4. College of Medicine Alfaisal University Riyadh Saudi Arabia

5. Division of Genetics Department of Pediatrics Prince Sultan Military Medical City Riyadh Saudi Arabia

6. Division of Genetics, Department of Pediatrics King Abdulaziz Medical City Riyadh Saudi Arabia

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/ajmg.a.62230

Reference12 articles.

1. Cathepsin K analysis in a pycnodysostosis cohort: demographic, genotypic and phenotypic features

2. Craniosynostosis in pycnodysostosis: Broadening the spectrum of the cranial flat bone abnormalities

3. Pycnodysostosis: Natural history and management guidelines from 27 French cases and a literature review

4. Fracture management in pycnodysostosis

5. The dental, craniofacial, and biochemical features of pyknodysostosis: A report of three new cases

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