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 journalLetter

9 Scopus citations
Original languageEnglish (US)
Pages (from-to)2331-2332
Number of pages2
JournalAmerican Journal of Medical Genetics, Part A
Volume155
Issue number9
DOIs
StatePublished - Sep 1 2011

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)

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