title: Rhizomelic chondrodysplasia punctata type 1 and fulminant neonatal respiratory failure, a case report and discussion of pathophysiology.
authors: McKusick-Nathans Institute of Genetic Medicine, Johns Hopkins Medical Center, Baltimore, Maryland, USA.
authors: Gretchen
authors: G
authors: Oswald
authors: Cathleen
authors: C
authors: Lawson
authors: Gerald
authors: G
authors: Raymond
authors: W Christopher
authors: WC
authors: Golden
authors: Nancy
authors: N
authors: Braverman
mesh_terms: D018902:Chondrodysplasia Punctata, Rhizomelic / Q000150:complications* / Q000175:diagnosis* / Q000235:genetics; D017809:Fatal Outcome; D006720:Homozygote; D006801:Humans; D007231:Infant, Newborn; D009154:Mutation; D000074437:Peroxisomal Targeting Signal 2 Receptor / Q000172:deficiency; D018160:Receptors, Cytoplasmic and Nuclear / Q000235:genetics; D012131:Respiratory Insufficiency / Q000150:complications* / Q000175:diagnosis* / Q000235:genetics
chemical_list: D000074437:Peroxisomal Targeting Signal 2 Receptor; D018160:Receptors, Cytoplasmic and Nuclear