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 (Q84745182)
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scientific article published on 10 August 2011
| Language | Label | Description | Also known as |
|---|---|---|---|
| English | 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 |
scientific article published on 10 August 2011 |
Statements
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 (English)
Thatjana Gardeitchik
Dorus Kouwenberg
2331-2; author reply 2333-4