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Article

A Novel Mutation in the Myosin Binding Protein C Gene in a Prader-Willi Syndrome Pedigree.

Reproductive sciences (Thousand Oaks, Calif.) - 1 Sept 2021

Liu Xiao-Qun, Luo Man, Liu Qi, Yang Guo-Can

Abstract excerpt

Prader-Willi syndrome (PWS) is a neurogenetic disorder caused by deficiency expression of paternally imprinted genes of the chromosomal region 15. In this study, we report a novel mutation in the myosin binding protein C (MYBPC3) gene in a Prader-Willi syndrome pedigree. Next-generation sequencing (NGS) and Sanger sequencing were performed to define and confirm the MYBPC3 gene mutation. Bioinformatics analysis...

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Identifiers

PMID: 34076875
DOI: 10.1007/s43032-021-00620-4

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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