✦ LIBER ✦

Later-onset congenital central hypoventilation syndrome due to a heterozygous 24-polyalanine repeat expansion mutation in the PHOX2B gene

✍ Scribed by Gabriela M Repetto; Raul J Corrales; Selim G Abara; Lili Zhou; Elizabeth M Berry-Kravis; Casey M Rand; Debra E Weese-Mayer

No coin nor oath required. For personal study only.

📜 SIMILAR VOLUMES

Polyalanine expansion and frameshift mut

✍ Amiel, Jeanne; Laudier, Béatrice; Attié-Bitach, Tania; Trang, Ha; de Pontual, Lo 📂 Article 📅 2003 🏛 Nature Publishing Group 🌐 English ⚖ 968 KB

A case of congenital central hypoventila

✍ Low, K.J.; Turnbull, A.R.; Smith, K.R.; Hilliard, T.N.; Hole, L.J.; Meecham Jone 📂 Article 📅 2014 🏛 John Wiley and Sons 🌐 English ⚖ 175 KB

Congenital central hypoventilation syndr

✍ Muslim Mohammed Al Saadi 📂 Article 📅 2010 🏛 Springer-Verlag 🌐 English ⚖ 627 KB