✦ LIBER ✦

Congenital central hypoventilation syndrome (Ondine's curse syndrome) in two siblings: Delayed diagnosis and successful noninvasive treatment

✍ Scribed by R. Kerbl; H. Litscher; H. M. Grubbauer; F. Reiterer; G. Zobel; M. Trop; B. Urlesberger; E. Eber; R. Kurz

Publisher: Springer
Year: 1996
Tongue: English
Weight: 490 KB
Volume: 155
Category: Article
ISSN: 0340-6997
DOI: 10.1007/bf02282890

No coin nor oath required. For personal study only.

📜 SIMILAR VOLUMES

Homozygous mutation of the PHOX2B gene i

Homozygous mutation of the PHOX2B gene in congenital central hypoventilation syndrome (Ondine's Curse)

✍ Delphine Trochet; Loïc de Pontual; Maria Helena Estêvao; Yves Mathieu; Arnold Mu 📂 Article 📅 2008 🏛 John Wiley and Sons 🌐 English ⚖ 495 KB

Homozygosity for a dominant allele is relatively rare and preferentially observed in communities with high inbreeding. According to the definition of true dominance, similar phenotypes should be observed in patients heterozygous and homozygous for a dominant mutation. However, the homozygous phenoty

Exclusion ofRNX as a major gene in conge

Exclusion ofRNX as a major gene in congenital central hypoventilation syndrome (CCHS, Ondine's curse)

✍ Amiel, Jeanne ;Pelet, Anna ;Trang, Ha ;de Pontual, Lo�c ;Simonneau, Michel ;Munn 📂 Article 📅 2003 🏛 John Wiley and Sons 🌐 English ⚖ 50 KB 👁 1 views