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Article

Identification of CC2D2A as a Meckel syndrome gene adds an important piece to the ciliopathy puzzle.

American journal of human genetics - 1 Jun 2008

Tallila Jonna, Jakkula Eveliina, Peltonen Leena, Salonen Riitta, Kestilä Marjo

Abstract excerpt

Meckel syndrome (MKS) is a lethal malformation disorder characterized classically by encephalocele, polycystic kidneys, and polydactyly. MKS is also one of the major contributors to syndromic neural tube defects (NTDs). Recent findings have shown primary cilia dysfunction in the molecular backgro...

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Source

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Identifiers

PMID: 18513680
DOI: 10.1016/j.ajhg.2008.05.004
PMCID: PMC2427307

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-18513680-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

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

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Identification of CC2D2A as a Meckel syndrome gene adds an important piece to the ciliopathy puzzle.PMID 18513680Read ↗

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