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Article

Preimplantation genetic diagnosis for severe albright hereditary osteodystrophy.

The Journal of clinical endocrinology and metabolism - 1 Mar 2008

Lietman Steven A, Goldfarb James, Desai Nina, Levine Michael A

Abstract excerpt

CONTEXT: Preimplantation genetic diagnosis (PGD) enables the selection of embryos without mutations for implantation and has not been described to our knowledge for mutations in GNAS. Phocomelia in a patient with Albright hereditary osteodystrophy (AHO) has also not been previously described. OBJECTIVE: The aim of this study was to identify a GNAS mutation in a patient with a severe form of AHO and...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

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Identifiers

PMID: 18089698
DOI: 10.1210/jc.2007-2040
PMCID: PMC2266954

Genes

GNAS
PGD

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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