Quantitative hypermorphic FAM111A alleles cause autosomal recessive Kenny-Caffey syndrome type 2 and osteocraniostenosis.

Li D, Mailand N, Ewing E, Hoffmann S, Caswell RC, Pang L, Eason J, Dou Y, Sullivan KE, Hakonarson H, Levine MA. Quantitative hypermorphic FAM111A alleles cause autosomal recessive Kenny-Caffey syndrome type 2 and osteocraniostenosis. JCI Insight. 2025 Mar 24; 10(6).

View in: PubMed

subject areas

Alleles
Child
Child, Preschool
Female
Genes, Recessive
Homozygote
Humans
Hyperostosis, Cortical, Congenital
Male
Mutation, Missense
Pedigree
Phenotype

authors with profiles

Kathleen Sullivan, APRN, PMHCNS-BC

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