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De Novo Heterozygous ZFX Frameshift Variant in a Female With an X‐Linked Neurodevelopmental Disorder

open access: yesAmerican Journal of Medical Genetics Part A, Volume 200, Issue 2, Page 521-530, February 2026.
ABSTRACT Germline ZFX variants are associated with an X‐linked neurodevelopmental disorder, with 14 males and 16 females reported to date. We describe a 20‐year‐old female with a heterozygous ZFX frameshift variant, p.(Met666Valfs*2), identified by genome sequencing, previously reported in an affected male.
Iftekhar A. Showpnil   +8 more
wiley   +1 more source

Dynamic DNA methylation changes during colorectal oncogenesis with insights from adenoma stages. [PDF]

open access: yesSci Rep
Overs A   +12 more
europepmc   +1 more source

Computed Tomographic Features of Benign and Malignant External Ear Canal Neoplasms in 39 Dogs. [PDF]

open access: yesVet Radiol Ultrasound
Veitch K   +6 more
europepmc   +1 more source

Comparison of adenoma detection rate using the novel 5-LED vs xenon-light endoscopic system: Propensity score matching analysis. [PDF]

open access: yesEndosc Int Open
Ito T   +13 more
europepmc   +1 more source

Subtype-specific risk factors for gastric adenomas and independent predictors of recurrence after endoscopic resection. [PDF]

open access: yesWorld J Gastrointest Endosc
El-Domiaty N   +11 more
europepmc   +1 more source

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