Title : Significant phenotype variability of congenital central hypoventilation syndrome in a family with polyalanine expansion mutation of the PHOX2B gene.

Pub. Date : 2016 Dec

PMID : 27485184






2 Functional Relationships(s)
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1 Significant phenotype variability of congenital central hypoventilation syndrome in a family with polyalanine expansion mutation of the PHOX2B gene. polyalanine paired like homeobox 2B Homo sapiens
2 Molecular genetic evaluation of PHOX2B gene was performed and casual polyalanine repeat expansion mutation c.741_755dup15 in exon 3 was found both in proband and her father in heterozygous form. polyalanine paired like homeobox 2B Homo sapiens