Is Roifman syndrome an X-linked ciliopathy with humoral immunodeficiency? Evidence from 2 new cases

International Journal of Immunogenetics

Volumn 38, Issue 6, 2011, Pages 501-505

  Gray, P E A ^a   Sillence, D ^b   Kakakios, A ^b  

^a SYDNEY CHILDREN'S HOSPITAL   (Australia)

^b CHILDREN S HOSPITAL AT WESTMEAD   (Australia)

Author keywords

[No Author keywords available]

Indexed keywords

IMMUNOGLOBULIN; IMMUNOGLOBULIN G; IMMUNOGLOBULIN M;

ACETABULUM; ARTICLE; BONE DYSPLASIA; BONE MALFORMATION; CASE REPORT; CHEST INFECTION; CHILD; CHRONIC LUNG DISEASE; CILIOPATHY; CLINICAL FEATURE; DYSTROPHY; ELLIS VAN CREVELD SYNDROME; EUKARYOTIC FLAGELLUM; EXTRAMEDULLARY HEMATOPOIESIS; FEMALE; HEPATOSPLENOMEGALY; HUMAN; HUMORAL IMMUNE DEFICIENCY; HYPERBILIRUBINEMIA; IMMOTILE CILIA SYNDROME; INTRAUTERINE GROWTH RETARDATION; LIVER BIOPSY; MALE; MEMORY CELL; OTITIS MEDIA; PHENOTYPE; PRESCHOOL CHILD; PRIORITY JOURNAL; RARE DISEASE; ROIFMAN SYNDROME; SPINE RADIOGRAPHY; X CHROMOSOME INACTIVATION; X CHROMOSOME RECESSIVE DISORDER;

BONE AND BONES; CARDIOMYOPATHIES; CHILD, PRESCHOOL; CILIA; FEMALE; GENETIC DISEASES, X-LINKED; HUMANS; IMMUNITY, HUMORAL; IMMUNOLOGIC DEFICIENCY SYNDROMES; INFANT, NEWBORN; MALE; MENTAL RETARDATION, X-LINKED; OSTEOCHONDRODYSPLASIAS; PELVIS; RETINAL DISEASES;

EID: 80855133261     PISSN: 17443121     EISSN: 1744313X     Source Type: Journal    
DOI: 10.1111/j.1744-313X.2011.01041.x     Document Type: Article

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