Mutations in PYCR1 cause cutis laxa with progeroid features
✍ Scribed by Reversade, Bruno; Escande-Beillard, Nathalie; Dimopoulou, Aikaterini; Fischer, Björn; Chng, Serene C; Li, Yun; Shboul, Mohammad; Tham, Puay-Yoke; Kayserili, Hülya; Al-Gazali, Lihadh
- Book ID
- 109914485
- Publisher
- Nature Publishing Group
- Year
- 2009
- Tongue
- English
- Weight
- 880 KB
- Volume
- 41
- Category
- Article
- ISSN
- 1061-4036
- DOI
- 10.1038/ng.413
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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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