Campomelic Dysplasia with Sex Reversal Harboring a Novel Frameshift Mutation

• Główni autorzy: Ha Na Lee (Autor), Chae Young Kim (Autor), Euiseok Jung (Autor), Beom Hee Lee (Autor), Byong Sop Lee (Autor), Ellen Ai Rhan Kim (Autor), Ki-Soo Kim (Autor)
• Format: Książka
• Wydane: Korean Society of Neonatology, 2020-11-01T00:00:00Z.
• Hasła przedmiotowe: article
• Dostęp online: Connect to this object online.

Campomelic dysplasia (CD) is a rare genetic disease characterized by skeletal dysplasia that also affects several other organ systems. CD is caused by a SOX9 mutation. We here report a case of CD with a 46, XY karyotype and female external genitalia. This child was born with a weight of 3.12 kg afte...