| Title : Compound heterozygous variants in PGAP1 causing severe psychomotor retardation, brain atrophy, recurrent apneas and delayed myelination: a case report and literature review - Kettwig_2016_BMC.Neurol_16_74 |
| Author(s) : Kettwig M , Elpeleg O , Wegener E , Dreha-Kulaczewski S , Henneke M , Gartner J , Huppke P |
| Ref : BMC Neurol , 16 :74 , 2016 |
| Abstract : Kettwig_2016_BMC.Neurol_16_74 |
| ESTHER : Kettwig_2016_BMC.Neurol_16_74 |
| PubMedSearch : Kettwig_2016_BMC.Neurol_16_74 |
| PubMedID: 27206732 |
Kettwig M, Elpeleg O, Wegener E, Dreha-Kulaczewski S, Henneke M, Gartner J, Huppke P (2016)
Compound heterozygous variants in PGAP1 causing severe psychomotor retardation, brain atrophy, recurrent apneas and delayed myelination: a case report and literature review
BMC Neurol
16 :74
Kettwig M, Elpeleg O, Wegener E, Dreha-Kulaczewski S, Henneke M, Gartner J, Huppke P (2016)
BMC Neurol
16 :74