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. [electronic resource]
Producer: 20120209Description: 2331-2; author reply 2333-4 p. digitalISSN:- 1552-4833
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Publication Type: Letter; Comment
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