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Article

Terminal osseous dysplasia with pigmentary defects and cardiomyopathy caused by a novel FLNA variant.

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

Rumping Lynne, Wessels Marja W, Postma Alex V, van Schuppen Joost, van Slegtenhorst Marjon A, Saris Jasper J, van Tintelen J Peter, Robertson Stephen P, Alders Mariëlle, Maas Saskia M, Deprez Ronald H Lekanne

Abstract excerpt

Terminal osseous dysplasia with pigmentary defects (TODPD), also known as digitocutaneous dysplasia, is one of the X-linked filaminopathies caused by a variety of FLNA-variants. TODPD is characterized by skeletal defects, skin fibromata and dysmorphic facial features. So far, only a single recurrent variant (c.5217G>A;p.Val1724_Thr1739del) in FLNA has found to be responsible for TODPD. We identified a novel...

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Identifiers

PMID: 34254723
DOI: 10.1002/ajmg.a.62417
PMCID: PMC9292317

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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