Keutel syndrome is a rare autosomal recessive disorder characterized by diffuse cartilage calcification, characteristic physiognomy, brachytelephalangism, peripheral pulmonary stenosis, hearing loss, and borderline to mild mental retardation. We report on an Arab boy with Keutel syndrome and cerebra
Keutel syndrome and miscarriages
✍ Scribed by Gilbert, Brigitte; Lacombe, Didier
- Publisher
- John Wiley and Sons
- Year
- 1999
- Tongue
- English
- Weight
- 16 KB
- Volume
- 83
- Category
- Article
- ISSN
- 0148-7299
- DOI
- 10.1002/(sici)1096-8628(19990319)83:3<209::aid-ajmg13>3.0.co;2-1
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✦ Synopsis
Recently in this journal, Teebi
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The Keutel syndrome (MIM 245150) is a rare autosomal recessive disorder, with only 13 patients reported thus far [reviewed by Teebi et al., 1998]. The recent identification of mutations in the calciumbinding matrix Gla protein in individuals with the Keutel syndrome has shed new light on the pathoge
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