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. 2023 Jan 16;10:993165. doi: 10.3389/fped.2022.993165

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© 2023 Zhang, Gu, Zhang, Xu, Wei, Chen, Shi, Sun, Zhou and Zhao.

This is an open-access article distributed under the terms of the Creative Commons Attribution License (CC BY). The use, distribution or reproduction in other forums is permitted, provided the original author(s) and the copyright owner(s) are credited and that the original publication in this journal is cited, in accordance with accepted academic practice. No use, distribution or reproduction is permitted which does not comply with these terms.

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CRYAB gene sequences of the proband and her parents (mutation sites are marked with arrows). The CRYAB c.302A > C (p.H101P) mutation was located in the region of exon 3 of chromosome 11 and resulted in the mutation of the NO. 302 nucleotide from adenine to cytosine (A). The proband with FIHMM and her mother carried the same gene mutation; however, her father's gene locus was normal. The CRYAB 3G > A (p.M1I) mutation was located in the region of exon 2 of chromosome 11 and caused the mutation of a synthetic amino acid from methionine to isoleucine (B). The mutation carried by the proband was inherited from her unaffected father, whereas her mother's gene locus was normal.