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Article

The clinical application of preimplantation genetic diagnosis for the patient affected by congenital contractural arachnodactyly and spinal and bulbar muscular atrophy.

Journal of assisted reproduction and genetics - 1 Nov 2016

Chen Linjun, Diao Zhenyu, Xu Zhipeng, Zhou Jianjun, Wang Wanjun, Li Jie, Yan Guijun, Sun Haixiang

Abstract excerpt

PURPOSE: To investigate the usefulness of preimplantation genetic diagnosis (PGD) for the patient affected by congenital contractural arachnodactyly (CCA) and spinal and bulbar muscular atrophy (SBMA). METHODS: Multiple displacement amplification (MDA) was performed for whole genome amplification (WGA) of biopsied trophectoderm (TE) cells. Direct mutation detection by sequencing and next-generation sequencing...

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Identifiers

PMID: 27393415
DOI: 10.1007/s10815-016-0760-y
PMCID: PMC5125142

Genes

PGD
SRY

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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