TY  - GEN
AU  - Trochet,Delphine
AU  - de Pontual,Loïc
AU  - Estêvao,Maria Helena
AU  - Mathieu,Yves
AU  - Munnich,Arnold
AU  - Feingold,J
AU  - Goridis,Christo
AU  - Lyonnet,Stanislas
AU  - Amiel,Jeanne
TI  - Homozygous mutation of the PHOX2B gene in congenital central hypoventilation syndrome (Ondine's Curse)
SN  - 1098-1004
PY  - 2008///0821
KW  - Alanine
KW  - genetics
KW  - Alleles
KW  - Female
KW  - Genes, Dominant
KW  - Homeodomain Proteins
KW  - Homozygote
KW  - Humans
KW  - Infant, Newborn
KW  - Male
KW  - Mutation
KW  - Pedigree
KW  - Sleep Apnea, Central
KW  - Transcription Factors
N1  - Publication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't
UR  - https://doi.org/10.1002/humu.20727
ER  -