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Article

Preimplantation genetic diagnosis of Morquio disease.

Prenatal diagnosis - 1 Oct 2008

Qubbaj Wafa, Al-Aqeel Aida I, Al-Hassnan Zuhair, Al-Duraihim Adel, Awartani Khalid, Al-Rejjal Rafat, Coskun Serdar

Abstract excerpt

OBJECTIVES: Morquio syndrome is an autosomal recessive disease and mutations in the N-acetylgalactosamine 6-sulfate sulfatase (GALNS) gene cause Morquio type A disease. Preimplantation genetic diagnosis (PGD), an early form of prenatal diagnosis for couples at risk of transmitting inherited disea...

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Source

Identifiers

PMID: 18792995
DOI: 10.1002/pd.2081

Genes

PGD
GALNS
ADO

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-18792995-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

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

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