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Article

A phenotype intermediate between Desbuquois dysplasia and diastrophic dysplasia secondary to mutations in DTDST.

American journal of medical genetics. Part A - 15 Nov 2008

Panzer K M, Lachman R, Modaff P, Pauli R M

Abstract excerpt

We describe a child whose original clinical and radiologic manifestations led to a diagnosis of Desbuquois dysplasia. Subsequent development of features including cervical kyphosis and cystic ears caused us to reconsider the original diagnosis. The new complement of features in this patient fell...

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Source

Identifiers

PMID: 18925670
DOI: 10.1002/ajmg.a.32543

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026. Prepared record publication-18925670-2026-09-04.2. Manifest publication-graph-cohort-2026-09-04.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 4 Sept 2026.

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A phenotype intermediate between Desbuquois dysplasia and diastrophic dysplasia secondary to mutations in DTDST.PMID 18925670Read ↗

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