Is Roifman syndrome an X-linked ciliopathy with humoral immunodeficiency? Evidence from 2 new cases. [electronic resource]
Producer: 20120308Description: 501-5 p. digitalISSN:- 1744-313X
- Bone and Bones -- diagnostic imaging
- Cardiomyopathies -- complications
- Child, Preschool
- Cilia -- pathology
- Female
- Genetic Diseases, X-Linked -- complications
- Humans
- Immunity, Humoral -- immunology
- Immunologic Deficiency Syndromes -- complications
- Infant, Newborn
- Male
- X-Linked Intellectual Disability -- complications
- Osteochondrodysplasias -- complications
- Pelvis -- diagnostic imaging
- Primary Immunodeficiency Diseases
- Radiography
- Retinal Diseases -- complications
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Publication Type: Case Reports; Journal Article
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