Associated Papers
Quantitative hypermorphic FAM111A alleles cause autosomal recessive Kenny-Caffey syndrome type 2 and osteocraniostenosis.
Li D et al.
Jci Insight, 2025
Diagnostic yield after next-generation sequencing in pediatric cardiovascular disease.
Slavotinek AM et al.
Hgg Advances, 2024
38521975 (PubMed )
Supplement: mmc2.xlsx › Supplementary_table_2
Expanding the Phenotypic Spectrum of Kenny-Caffey Syndrome.
Schigt H et al.
The Journal of Clinical Endocrinology and Metabolism, 2023
Gene-nutrient interactions that impact magnesium homeostasis increase risk for neural tube defects in mice exposed to dolutegravir.
Gelineau-van Waes J et al.
Frontiers in Cell and Developmental Biology, 2023
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