Cartilage-hair hypoplasia caused by novel compound heterozygous RMRP mutations. [electronic resource]
Producer: 20120105Description: 559-61 p. digitalISSN:- 0974-7559
- Adolescent
- Base Sequence
- Child
- Consanguinity
- DNA Mutational Analysis
- Female
- Genetic Carrier Screening
- Hair -- abnormalities
- Hirschsprung Disease -- diagnosis
- Humans
- Immunologic Deficiency Syndromes -- diagnosis
- Male
- Molecular Sequence Data
- Osteochondrodysplasias -- congenital
- Primary Immunodeficiency Diseases
- RNA, Long Noncoding
- RNA, Untranslated -- genetics
- Sequence Alignment
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Publication Type: Case Reports; Journal Article
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