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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

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  • How to Cite this Article: Kouwenberg D, Gardeitchik T, Wevers RA, Häberle J, Morava E. 2011. 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. Am J Med Genet Part A 155:2331–2332.

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