A Second Report of a Missense Variant inAMMECR1Causing Midface Hypoplasia, Hearing Impairment, Elliptocytosis, and Nephrocalcinosis: Case Report and Literature Review

发表于 2026-9-1 09:07:20

期刊：Clinical Genetics

文献作者：Jia W. Tan; Matheus Vernet Machado Bressan Wilke; Deepak Panwar; Eva S. Kahn; Marta Figueiral; Ozan Dikilitas; Yao Xiao; David J. Sas; Brendan C. Lanpher; Filippo Pinto e Vairo; Eric W. Klee

出版日期：--

DOI号：10.1111/cge.70209

下载链接：https://onlinelibrary.wiley.com/doi/pdfdirect/10.1111/cge.70209

文献链接：https://doi.org/10.1111/cge.70209

当前文献来源于 Wiley。

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发表于 2026-9-1 09:07:21

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[Wiley] A Second Report of a Missense Variant inAMMECR1Causing Midface Hypoplasia, Hearing Impairment, Elliptocytosis, and Nephrocalcinosis: Case Report and Literature Review

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[Wiley] A Second Report of a Missense Variant inAMMECR1Causing Midface Hypoplasia, Hearing Impairment, Elliptocytosis, and Nephrocalcinosis: Case Report and Literature Review 一键复制