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Article

Cranio-lenticulo-sutural dysplasia associated with defects in collagen secretion.

Clinical genetics - 1 Aug 2011

Boyadjiev Simeon A, Kim S-D, Hata A, Haldeman-Englert C, Zackai E H, Naydenov C, Hamamoto S, Schekman R W, Kim Jinoh

Abstract excerpt

Cranio-lenticulo-sutural dysplasia (CLSD) is a rare autosomal recessive syndrome manifesting with large and late-closing fontanels and calvarial hypomineralization, Y-shaped cataracts, skeletal defects, and hypertelorism and other facial dysmorphisms. The CLSD locus was mapped to chromosome 14q13...

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Source

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Identifiers

PMID: 21039434
DOI: 10.1111/j.1399-0004.2010.01550.x
PMCID: PMC4143380

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-21039434-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 2 Sept 2026.

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