Prenatal genetic diagnosis of disseminated infantile myofibromatosis: a case report and literature review

Prenatal genetic diagnosis of disseminated infantile myofibromatosis: a case report and literature review

Abstract Background Infantile myofibromatosis (IM) is a rare disorder characterized by the formation of nodules in the skin, muscle, bone, and, more rarely, visceral organs. Very few cases are detected prenatally, and the final diagnosis cannot be made until pathology is completed after birth. Here,...

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Bibliographic Details
Main Authors: Yan Lü, Yulin Jiang, Huanwen Wu, Qingwei Qi, Xiya Zhou, Qi Guo, Na Hao, Juntao Liu, Hua Meng
Format: Article
Language:English
Published: BMC 2023-08-01
Series:BMC Medical Genomics
Subjects:
Infantile myofibromatosis
Prenatal diagnosis
PDGFRB
Genetic testing
Case report
Online Access:https://doi.org/10.1186/s12920-023-01612-w

Internet

https://doi.org/10.1186/s12920-023-01612-w

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