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Article

Brachytelephalangic chondrodysplasia punctata with distinctive phenotype and normal karyotype.

American journal of medical genetics - 19 Mar 1998

Zizka J, Charvat J, Baxova A, Balicek P, Kozlowski K

Abstract excerpt

We present two sibs with a distinctive phenotype and with stippled calcifications of the tarsal bones and sacro-coccygeal spine. They represent an apparently "new" form of chondrodysplasia punctata.

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Identifiers

PMID: 9508239
DOI: 10.1002/(sici)1096-8628(19980319)76:3<213::aid-ajmg3>3.0.co;2-r

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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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