Low amounts of PHOX2B expanded alleles in asymptomatic parents suggest unsuspected recurrence risk in congenital central hypoventilation syndrome
T Bachetti, S Parodi, M Di Duca, G Santamaria… - Journal of molecular …, 2011 - Springer
Heterozygous trinucleotide in frame duplications, leading to expansions of variable lengths
of a 20-alanine stretch (polyAla), is the most frequent PHOX2B variant associated with …
of a 20-alanine stretch (polyAla), is the most frequent PHOX2B variant associated with …
Congenital central hypoventilation syndrome: four families
Background Congenital central hypoventilation syndrome (CCHS) is a rare condition that
usually presents soon after birth and is potentially life-shortening if not treated. The defining …
usually presents soon after birth and is potentially life-shortening if not treated. The defining …
Síndrome de Hipoventilação Central (SHC)
RAAL Medeiros - 2011 - search.proquest.com
A Síndrome de Hipoventilação Central é uma entidade clínica rara do sistema nervoso
central, autossómica dominante, caracterizada por uma resposta ventilatória autonómica …
central, autossómica dominante, caracterizada por uma resposta ventilatória autonómica …
[图书][B] Strain-specific alleles of Phox2B differentially modify sox10dom aganglionosis
LC Walters - 2011 - search.proquest.com
The ganglia of the enteric nervous system (ENS), composed of multiple neuronal subtypes
and enteric glia, are formed by cells derived from the neural crest. In addition to the ENS, this …
and enteric glia, are formed by cells derived from the neural crest. In addition to the ENS, this …