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In Vivo Functional Study of Disease-associated Rare Human Variants Using Drosophila
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A novel variant in IFT122 associated with a severe phenotype of cranioectodermal dysplasia

Shiho Nagayama1, Hironori Takahashi1, Fuyuki Hasegawa2

  • 1Department of Obstetrics and Gynecology, Jichi Medical University, Shimotsuke, Japan.

Congenital Anomalies
|April 19, 2024
PubMed

Keywords:
IFT122cranioectodermal dysplasiahydrops fetalisshort rib polydactyly syndromeskeletal dysplasia

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