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Paper Details

The IFITM5 Ser40Leu variant can manifest as prenatal Caffey disease.
Am J Med Genet A
0
2024
COL1A1, COL1A2, CRTAP, Caffey disease, ICH, IFITM5, IFITM5 Ser40Leu variant, OI, OI gene panel, P3H1 genes, PCH, Ser40Leu, c., diaphyseal hyperostosis, gene panel, infantile Caffey disease, osteogenesis imperfect, polyhydramnios
Author NameAffiliation
Gen NishimuraMusashino-Yowakai Hospital
Saumya Shekhar JamuarPediatric Academic Clinical Programme, Duke-NUS Medical School
Saumya Shekhar JamuarKK Women's and Children's Hospital
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Release 1.2