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

Dorus Kouwenberg, Thatjana Gardeitchik, Ron A. Wevers, Johannes Häberle, Eva Morava

Research output: Contribution to journal › Letter › peer-review

9 Scopus citations

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