12-Year-old male with Elejalde syndrome (neuroectodermal melanolysosomal disease)

American Journal of Medical Genetics

Volumn 98, Issue 4, 2001, Pages 313-316

  Ivanovich, Jennifer ^a   Mallory, Susan ^a   Storer, Timothy ^b   Ciske, David ^b   Hing, Anne ^b  

^a WASHINGTON UNIVERSITY SCHOOL OF MEDICINE   (United States)

^b UNIVERSITY OF WASHINGTON SCHOOL OF MEDICINE   (United States)

Author keywords

Chediak Higashi syndrome; Elejalde syndrome; Griscelli syndrome

Indexed keywords

ARTICLE; CASE REPORT; CENTRAL NERVOUS SYSTEM DISEASE; CHEDIAK HIGASHI SYNDROME; CHILD; COMPARATIVE STUDY; COMPUTER ASSISTED TOMOGRAPHY; DEVELOPMENTAL DISORDER; ELEJALDE SYNDROME; HAIR DISEASE; HUMAN; IMMUNE DEFICIENCY; INFANTILE SPASM; LYSOSOME STORAGE DISEASE; MALE; NEUROECTODERM; PIGMENT DISORDER; PRIORITY JOURNAL;

ADOLESCENT; CENTRAL NERVOUS SYSTEM DISEASES; HAIR; HUMANS; KERATINOCYTES; MALE; MELANINS; MELANOCYTES; PIGMENTATION DISORDERS; SKIN; SYNDROME;

EID: 0035254468     PISSN: 01487299     EISSN: None     Source Type: Journal    
DOI: 10.1002/1096-8628(20010201)98:4<313::AID-AJMG1098>3.0.CO;2-P     Document Type: Article

References (19)

1. Identification of the homologous beige and Chediak-Higashi syndrome genes
2. The Chediak-Higashi syndrome: Studies in four patients and a review of the literature
3. Chediak-Higashi syndrome: A lethal familial disease with anomalous inclusions in the leukocytes and constitutional stigmata: Report of a case with necropsy
4. Elejalde syndrome-a melanolysosomal neurocutaneous syndrome: Clinical and morphological findings in 7 patients
5. Neuro-ectodermal melanolysosomal disease: An autosomal recessive pigment mutation in man
6. Acrocephalopolydactylous dysplasia
7. Mutations affecting pigmentation in man: I. Neuroectodermal melanolysosomal disease
8. Homozygosity mapping of the gene for Chediak-Higashi syndrome to chromosome 1q42-q44 in a segment of conserved synteny that includes the mouse beige locus (bg)
9. A syndrome associating partial albinism and immunodeficiency
10. Griscelli disease with cerebral involvement
11. A kindred with Griscelli disease: Spectrum of neurological involvement
12. Partial albinism with immunodeficiency (Griscelli syndrome)
13. Partial albinism with immunodeficiency: Griscelli syndrome: Report of a case and review of the literature
14. Novel myosin heavy chain encoded by murine dilute coat colour locus
15. Identification and mutation analysis of the complete gene for Chediak-Higashi syndrome
16. Griscelli diseases maps to chromosome 15q21 and is associated with mutations in myosin-Va gene
17. The accelerated phase of Chediak-Higashi syndrome: An expression of the virus-associated hemophagocytic syndrome?
18. Genetic defects in Chediak-Higashi syndrome and the beige mouse
19. Chediak-Hiagshi syndrome