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Article

First successful trial of preimplantation genetic diagnosis for pantothenate kinase-associated neurodegeneration.

Journal of assisted reproduction and genetics - 1 Jan 2017

Trachoo Objoon, Satirapod Chonthicha, Panthan Bhakbhoom, Sukprasert Matchuporn, Charoenyingwattana Angkana, Chantratita Wasun, Choktanasiri Wicharn, Hongeng Suradej

Abstract excerpt

PURPOSE: We aim to present a case of a healthy infant born after intracytoplasmic sperm injection-in vitro fertilization (ICSI-IVF) with a preimplantation genetic diagnosis (PGD) for pantothenate kinase-associated neurodegeneration (PKAN) due to PANK2 mutation. METHODS: ICSI-IVF was performed on a Thai couple, 34-year-old female and 33-year-old male, with a family history of PKAN in their first child. Following...

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Source

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Identifiers

PMID: 27815806
DOI: 10.1007/s10815-016-0833-y
PMCID: PMC5330985

Genes

PGD
PANK2

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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