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Article

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

American journal of medical genetics. Part A - 1 Aug 2021

Mushiba Aziza M, Faqeih Eissa, Saleh Mohammed A, Ramzan Khushnooda, Imtiaz Faiqa, Al-Owain Mohammed, Alhashem Amal M, Alswaid Abdulrahman

Abstract excerpt

Pycnodysostosis is characterized by short stature, osteosclerosis, acro-osteolysis, increased tendency of fractures, and distinctive dysmorphic features. It is a rare autosomal recessive disease caused by biallelic CTSK mutations. The clinical details of 18 patients from Saudi Arabia were reviewed. Short stature, osteopetrosis, acro-osteolysis, and distinctive facial dysmorphism were documented in all cases. Our...

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PMID: 33963797
DOI: 10.1002/ajmg.a.62230

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