Piebaldism associated with congenital dyserythropoietic anemia type II (HEMPAS)

American Journal of Hematology

Volumn 69, Issue 3, 2002, Pages 210-213

  Kkl, Seyfettin ^a,b   Erturul, Derun ^a   Onat, Ahmet Mesut ^a   Karaku, Sema ^a   Haznedarolu, Brahim C ^a   Bykak, Yahya ^a   Saynalp, Nilgn ^a   Zcebe, Osman ^a   Dndar, Semra V ^a  

^a HACETTEPE UNIVERSITY   (Turkey)

^b Orman Genel Mdrl Lojmanlar ^*  (Turkey)

Author keywords

Anemia; Dyserythropoiesis; HEMPAS; Piebaldism; Vaginal atresia

Indexed keywords

ADULT; ARTICLE; CASE REPORT; CLINICAL FEATURE; DISEASE ASSOCIATION; ERYTHROPOIESIS; FEMALE; HEMATOPOIETIC SYSTEM; HEREDITARY HEMOLYTIC ANEMIA; HUMAN; PIEBALDISM; PRIORITY JOURNAL; STEM CELL; VAGINA ATRESIA;

ADULT; ANEMIA, DYSERYTHROPOIETIC, CONGENITAL; FEMALE; HUMANS; PIEBALDISM; VAGINA;

EID: 0036183338     PISSN: 03618609     EISSN: None     Source Type: Journal    
DOI: 10.1002/ajh.10055     Document Type: Article

References (12)

1. Type 1 dyserythropoietic anemia in an elderly patient
2. Ultrastructure studies of an unusual variant of congenital dyserythropoietic anemia type II
3. Congenital dyserythropoietic anemia type II (HEMPAS)
4. Congenital dyserythropoietic anemia type II: Morphological characterization of the erythroid colonies (BFU-E) from the bone marrow and peripheral blood of two patients
5. Incomplete synthesis of N-glycans in congenital dyserythropoietic anemia type-II caused by a defect in the gene encoding α mannosidase-II
6. Localization of the congenital dyserythropoietic anemia II locus to chromosome 20q11.2 by genome-wide search
7. Aberrant regulation of complement by the erythrocytes of hereditary erythroblastic multinuclearity with a positive acidified serum lysis test
8. HEMPAS disease: Genetic defect of glycosylation
9. Deletion of the c-kit protooncogene in the human developmental defect piebald trait
10. Mutation of kit (mast/stem cell growth factor receptor) proto-oncogene in human piebaldism
11. Mutations of the kit (mast/stem cell growth factor receptor) proto-oncogene account for a continuous range of phenotypes in human piebaldism
12. Congenital dyserythropoietic anemia and chronic recurrent multifocal osteomyelitis in three related children and the association with Sweet syndrome in two siblings