Mild clinical phenotype and subtle radiographic findings in an infant with cartilage-hair hypoplasia

Turkish Journal of Pediatrics

Volumn 51, Issue 5, 2009, Pages 493-496

  Türkkani Asal, Gülten ^a   Alanay, Yasemin ^a   Turul Özgür, Tuba ^a   Zenker, Martin ^b   Thiel, Christian ^b   Rauch, Anita ^b   Ünal, Şule ^a   Gürgey, Aytemiz ^a   Tezcan, Ilhan ^a  

^a HACETTEPE UNIVERSITY   (Turkey)

^b UNIVERSITY HOSPITAL ERLANGEN   (Germany)

Author keywords

Cartilage hair hypoplasia; Immunodeficiency; RMRP gene

Indexed keywords

COTRIMOXAZOLE; HEMOGLOBIN; IMMUNOGLOBULIN; IMMUNOGLOBULIN A; IMMUNOGLOBULIN E; IMMUNOGLOBULIN G; IMMUNOGLOBULIN M;

ANEMIA; ANTIBODY RESPONSE; ANTIBODY TITER; ARTICLE; BODY HEIGHT; BODY WEIGHT; BONE DYSPLASIA; BONE MARROW EXAMINATION; CARTILAGE HAIR HYPOPLASIA; CASE REPORT; CD3+ T LYMPHOCYTE; CD4+ T LYMPHOCYTE; CD8+ T LYMPHOCYTE; CONGENITAL DYSERYTHROPOIETIC ANEMIA; DISEASE ASSOCIATION; DYSERYTHROPOIESIS; ECTODERMAL DYSPLASIA; ELLIPTOCYTOSIS; FACE MALFORMATION; GENE; GENE MUTATION; GENE SEQUENCE; HAND RADIOGRAPHY; HEAD CIRCUMFERENCE; HETEROZYGOSITY; HUMAN; IMMUNE DEFICIENCY; IMMUNOGLOBULIN BLOOD LEVEL; INFANT; IRON DEFICIENCY ANEMIA; LYMPHOCYTOPENIA; MALE; MYCOSIS; NEUTROPENIA; OTITIS MEDIA; PHENOTYPE; POLIOMYELITIS VIRUS; PROMOTER REGION; RADIODIAGNOSIS; RECURRENT DISEASE; RMRP GENE; SHORT LIMBED DWARFISM; SHORT STATURE; SPHEROCYTOSIS; THRUSH; VERTEBRA MALFORMATION;

ABNORMALITIES, MULTIPLE; CARTILAGE; DIAGNOSIS, DIFFERENTIAL; HAIR; HUMANS; IMMUNOLOGIC DEFICIENCY SYNDROMES; INFANT; MALE; MUTATION; OSTEOCHONDRODYSPLASIAS; OTITIS MEDIA; PHENOTYPE; RECURRENCE;

EID: 76149130064     PISSN: 00414301     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article

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