New case of Cole-Carpenter syndrome
Author:
Publisher
Wiley
Subject
Genetics (clinical)
Reference15 articles.
1. Defective collagen crosslinking in bone, but not in ligament or cartilage, in Bruck syndrome: Indications for a bone-specific telopeptide lysyl hydroxylase on chromosome 17
2. Abnormal type I collagen metabolism by cultured fibroblasts in lethal perinatal osteogenesis imperfecta
3. Bone fragility, craniosynostosis, ocular proptosis, hydrocephalus, and distinctive facial features: A newly recognized type of osteogenesis imperfecta
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2. RETRACTED ARTICLE: Fetal methotrexate syndrome and Antley–Bixler syndrome should not be confused;Pediatric Radiology;2018-04-19
3. Genetic disorders of calcium, phosphorus, and bone homeostasis;Translational Science of Rare Diseases;2018-04-13
4. P4HB recurrent missense mutation causing Cole-Carpenter syndrome;Journal of Medical Genetics;2017-12-20
5. Cole–Carpenter syndrome-1 with a de novo heterozygous deletion in the P4HB gene in a Chinese girl;Medicine;2017-12
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