Phenotypic variations of cartilage hair hypoplasia: granulomatous skin inflammation and severe T cell immunodeficiency as initial clinical presentation in otherwise well child with short stature. [electronic resource]
Producer: 20141017Description: 42-8 p. digitalISSN:- 1573-2592
- Bone and Bones -- diagnostic imaging
- Child, Preschool
- Dermatitis -- pathology
- Dwarfism
- Female
- Granuloma -- pathology
- Hair -- abnormalities
- Hematopoietic Stem Cell Transplantation -- adverse effects
- Hirschsprung Disease -- diagnosis
- Humans
- Immunologic Deficiency Syndromes -- diagnosis
- Immunophenotyping
- Osteochondrodysplasias -- congenital
- Phenotype
- Primary Immunodeficiency Diseases
- Radiography
- Receptors, Antigen, T-Cell, alpha-beta -- metabolism
- T-Lymphocytes -- metabolism
- Transplantation, Homologous
- Treatment Outcome
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Publication Type: Case Reports; Journal Article
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