title: Recognizable phenotype with common occurrence of microcephaly, psychomotor retardation, but no spontaneous bone fractures in autosomal recessive cutis laxa type IIB due to PYCR1 mutations.
authors.forename: Dorus
authors.initials: D
authors.lastname: Kouwenberg
authors.forename: Thatjana
authors.initials: T
authors.lastname: Gardeitchik
authors.forename: Ron A
authors.initials: RA
authors.lastname: Wevers
authors.forename: Johannes
authors.initials: J
authors.lastname: Häberle
authors.forename: Eva
authors.initials: E
authors.lastname: Morava
mesh_terms: D000015:Abnormalities, Multiple / Q000235:genetics*; D002886:Chromosomes, Human, Pair 17 / Q000235:genetics*; D005260:Female; D006801:Humans; D008607:Intellectual Disability / Q000235:genetics*; D008297:Male; D009154:Mutation / Q000235:genetics*; D010641:Phenotype; D011762:Pyrroline Carboxylate Reductases / Q000235:genetics*
chemical_list: D011762:Pyrroline Carboxylate Reductases