## Abstract Cartilage hair hypoplasia (CHH) or McKusick type metaphyseal chondrodysplasia (MCD) (OMIM # 250250) is due to either the homozygous or compound heterozygous mutations in the nuclear encoded, non‐coding RNA gene __RMRP__. Twenty‐seven CHH patients were referred for molecular evaluation o
✦ LIBER ✦
Diffuse Lymphoplasmacytic Bronchiolitis in Cartilage-Hair Hypoplasia
✍ Scribed by Céline Bailly-Botuha; Francis Jaubert; Rola Abou Taam; Louise Galmiche; Capucine Picard; Gabriel Bellon; Jacques de Blic
- Book ID
- 113744387
- Publisher
- Elsevier Science
- Year
- 2008
- Tongue
- English
- Weight
- 576 KB
- Volume
- 152
- Category
- Article
- ISSN
- 1097-6833
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Cartilage hair hypoplasia (CHH), or metaphyseal dysplasia McKusick type, classically comprises short stature and scant fine hair. In this skeletal dysplasia there is a high incidence of immune deficiency and Hirschsprung disease, as well as a higher rate of malignancy. Clinical findings may be subtl
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