Autosomal Recessive Infantile Hyaline Fibromatosis Identified Using Artificial Intelligence-Assisted Rapid Whole Genome Sequencing: A Rare, Multisystemic, Hereditary Disorder

Author:

Ye George X,Ontiveros Eric,Ivander Axel,Velinov Milen,Simotas Christopher

Publisher

Springer Science and Business Media LLC

Reference15 articles.

1. About GARD. (2024). Accessed. April 19, 2024: https://rarediseases.info.nih.gov/about.

2. Estimating the number of diseases - the concept of rare, ultra-rare, and hyper-rare;Smith CI;iScience,2022

3. Hyaline fibromatosis syndrome;Shieh J,2023

4. The GeneCards Suite: from gene data mining to disease genome sequence analyses;Stelzer G;Curr Protoc Bioinformatics,2016

5. Hyaline fibromatosis syndrome: a rare inherited disorder;Mantri MD;Indian J Dermatol,2016

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