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Article

First successful application of preimplantation genetic diagnosis and haplotyping for congenital hyperinsulinism.

Reproductive biomedicine online - 1 Jan 2011

Qubbaj Wafa, Al-Swaid Abdulrahman, Al-Hassan Saad, Awartani Khalid, Deek Hesham, Coskun Serdar

Abstract excerpt

Congenital hyperinsulinism is the most common cause of persistent hypoglycaemia in infancy. Early surgical intervention is usually required to prevent brain damage. The prevention of the transmission to the offspring is important in families carrying the mutated gene. Preimplantation genetic diagnosis (PGD) is an early genetic testing procedure for couples at risk of transmitting inherited diseases. A 36-year-old...

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Source

Identifiers

PMID: 21115269
DOI: 10.1016/j.rbmo.2010.09.016

Genes

PGD
KCNJ11

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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