Case Report: Prenatal Diagnosis of a Fetus With Harlequin Ichthyosis Identifies Novel Compound Heterozygous Variants: A Case Report

BACKGROUND: Harlequin ichthyosis (HI) is the most severe form of the keratinizing disorders, and it is characterized by whole-body hard stratum corneum. ABCA12 has been identified as the major disease-causing gene of HI. METHODS: A case of HI was prenatally diagnosed by ultrasonography and genetic t...

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Detalles Bibliográficos
Autores principales: Liu, Jiao, Zhang, Xingyu, Wang, Weilan, Lan, Xiaofang, Dong, Minyue, Yan, Kai, Lei, Yongliang, Chen, Penglong, Yang, Mufeng, Shan, Qunda, Jin, Chunlei
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2021
Materias:
Genetics
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7835937/
https://www.ncbi.nlm.nih.gov/pubmed/33510771
http://dx.doi.org/10.3389/fgene.2020.608196

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7835937/
https://www.ncbi.nlm.nih.gov/pubmed/33510771
http://dx.doi.org/10.3389/fgene.2020.608196

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