Germline mosaicism ofPHOX2Bmutation accounts for familial recurrence of congenital central hypoventilation syndrome (CCHS)

Low amounts of PHOX2B expanded alleles in asymptomatic parents suggest unsuspected recurrence risk in congenital central hypoventilation syndrome

(2011) Tiziana Bachetti et al.   JOURNAL OF MOLECULAR MEDICINE-JMM

Variable human phenotype associated with novel deletions of the PHOX2B gene

(2011) Lawrence J. Jennings et al.   PEDIATRIC PULMONOLOGY

An Official ATS Clinical Policy Statement: Congenital Central Hypoventilation Syndrome

(2010) Debra E. Weese-Mayer et al.   AMERICAN JOURNAL OF RESPIRATORY AND CRITICAL CARE MEDICINE

Comparison of PHOX2B Testing Methods in the Diagnosis of Congenital Central Hypoventilation Syndrome and Mosaic Carriers

(2010) Lawrence J. Jennings et al.   DIAGNOSTIC MOLECULAR PATHOLOGY

Congenital Central Hypoventilation Syndrome due to PHOX2b Gene Defects: Inheritance from Asymptomatic Parents

(2009) M. Hammel et al.   KLINISCHE PADIATRIE

Later-onset congenital central hypoventilation syndrome due to a heterozygous 24-polyalanine repeat expansion mutation in thePHOX2Bgene

(2008) Gabriela M Repetto et al.   ACTA PAEDIATRICA

PHOX2BGermline and Somatic Mutations in Late-Onset Central Hypoventilation Syndrome

(2007) Delphine Trochet et al.   AMERICAN JOURNAL OF RESPIRATORY AND CRITICAL CARE MEDICINE