Severe Dejerine-Sottas disease with respiratory failure and dysmorphic features in association with a PMP22 point mutation and a 3q23 microdeletion.
Nicol C
NC
Voermans
Tjitske
T
Kleefstra
Anneke A
AA
Gabreëls-Festen
Brigitte H W
BH
Faas
Erik-Jan
EJ
Kamsteeg
Henry
H
Houlden
Matilde
M
Laurá
James M
JM
Polke
Amelie
A
Pandraud
Fred
F
van Ruissen
Baziel G
BG
van Engelen
Mary M
MM
Reilly
D000015:Abnormalities, Multiple / Q000235:genetics; D002893:Chromosomes, Human, Pair 3 / Q000235:genetics*; D005260:Female; D017353:Gene Deletion; D015417:Hereditary Sensory and Motor Neuropathy / Q000235:genetics* / Q000473:pathology*; D006801:Humans; D009185:Myelin Proteins / Q000235:genetics*; D017354:Point Mutation; D012131:Respiratory Insufficiency / Q000235:genetics*; D055815:Young Adult
D009185:Myelin Proteins; C073687:PMP22 protein, human