Post-mortem histology in transient receptor potential cation channel subfamily V member 6 (TRPV6) under-mineralising skeletal dysplasia suggests postnatal skeletal recovery: a case report

• Asıl Yazarlar: Anna E. Mason (Yazar), David Grier (Yazar), Sarah F. Smithson (Yazar), Christine P. Burren (Yazar), Elise Gradhand (Yazar)
• Materyal Türü: Kitap
• Baskı/Yayın Bilgisi: BMC, 2020-03-01T00:00:00Z.
• Konular: article
• Online Erişim: Connect to this object online.

Abstract Background The calcium-selective channel TRPV6 (transient receptor potential cation channel subfamily V member 6) is crucial for maternal-fetal calcium transport across the placenta. TRPV6 mutations have recently been associated with an antenatally severe under-mineralising skeletal dysplas...