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Article

Further Evidence That Chondrocalcinosis 1 (CCAL1) is a Confirmed Mendelian Phenotype With a Known Molecular Basis.

American journal of medical genetics. Part A - 1 Dec 2025

Pansa Anna-Christina, Selig Mareike, Wingendorf Markus, Brown Matthew A, Bartsch Oliver

Abstract excerpt

Chondrocalcinosis (CCAL), also known as calcium pyrophosphate dihydrate deposition disease (CPPDD), is a frequent multifactorial condition in the elderly, but there are two rare autosomal dominant Mendelian forms, CCAL1 (OMIM %600668) and CCAL2. Only three families with molecularly proven CCAL1 have been reported. Here, we describe an additional family from Germany (12 individuals, nine living) with CPPDD...

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PMID: 40735895
DOI: 10.1002/ajmg.a.64185

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TNFRSF11B

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