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Decreased bone density and treatment in patients with autosomal recessive cutis laxa

✍ Scribed by C Noordam; S Funke; NV Knoers; P Jira; RA Wevers; Z Urban; E Morava

Book ID
114815879
Publisher
John Wiley and Sons
Year
2009
Tongue
English
Weight
173 KB
Volume
98
Category
Article
ISSN
0803-5253

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Recognizable phenotype with common occur
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 HΓ€berle; Eva Mora πŸ“‚ Article πŸ“… 2011 πŸ› John Wiley and Sons 🌐 English βš– 61 KB πŸ‘ 1 views

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.