A Novel Homozygous Missense SCUBE3 Variant with Protein Modeling in a Patient Diagnosed as Short Stature, Facial Dysmorphism, and Skeletal Anomalies with or without Cardiac Anomalies 2

Tarih

Yazarlar

Sezgin, Batin Ilgit

Dilek, Yunus Emre

Demirkol, Yasemin Kendir

Selamioglu, Arzu

Kirmizibekmez, Heves

Celebiler, Hande Kaymakcalan

Akcapinar, Gunseli Bayram

Yayınevi

Anahtar kelimeler

Protein modeling, SCUBE3, Short stature, SSFSC2, Exome sequencing

URI

https://openaccess.acibadem.edu.tr/handle/11443/5108

Koleksiyonlar

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