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March 12, 2026Prenatal Diagnosis

Prenatal Variable Expressivity of a Maternal FGFR1 Truncating Variant in Consecutive Pregnancies: A Dual‐Generation Case Report

Huining Jing Hao Wang Bo Xu Shanling Liu Hao Wang Zhu Zhang

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Jing et al. (2026) studied this question.

synapsesocial.com/papers/69b4ad7918185d8a39800c69 https://doi.org/10.1002/pd.70121

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Synapse has enriched 5 closely related papers on similar clinical questions. Consider them for comparative context:

1Prenatally Diagnosed Beare‐Stevenson Cutis Gyrata Syndrome With a Novel <i>FGFR2</i> VariantOriginal Research · 2026
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4Blended Phenotype Involving FBN1 and Novel PIGL Variants of Uncertain Significance: A Prenatal Case ReportCase Report · 2026
5The Prenatal Phenotype: Illustrating the Complexities of Genetic Testing and Interpretation With the Goal of Understanding the Fetal Presentation of Genetic DiseaseOriginal Research · 2026

Discovery of pathogenic variants in EFEMP2 and RAG1 and undetectable fetal phenotype: A challenge of prenatal exome sequencing2024
Prenatal Diagnosis of Recurrent Fetal Intracranial Hemorrhage and a Maternally Inherited COL4A1 Variant of Uncertain Significance: A Case Report With Maternal Reverse Phenotyping2026
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