TY  - GEN
AU  - Kouwenberg,Dorus
AU  - Gardeitchik,Thatjana
AU  - Wevers,Ron A
AU  - Häberle,Johannes
AU  - Morava,Eva
TI  - 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
SN  - 1552-4833
PY  - 2012///0209
KW  - Abnormalities, Multiple
KW  - genetics
KW  - Chromosomes, Human, Pair 17
KW  - Female
KW  - Humans
KW  - Intellectual Disability
KW  - Male
KW  - Mutation
KW  - Phenotype
KW  - Pyrroline Carboxylate Reductases
N1  - Publication Type: Letter; Comment
UR  - https://doi.org/10.1002/ajmg.a.34154
ER  -