Griscelli syndrome: Rab 27a mutation

An infant with partial albinism was suspected to have Chediak-Higashi syndrome because two of his elder siblings had albinism and died in childhood following accelerated phase. Detailed investigations of blood, hair and skin of the proband revealed that he had Griscelli syndrome.

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Bibliographische Detailangaben
Veröffentlicht in:	Indian pediatrics 2004-09, Vol.41 (9), p.944-947
Hauptverfasser:	S.R, Sheela, MANOJ, Latha, INJODY, Susy J
Format:	Artikel
Sprache:	eng
Schlagworte:	Aminoacid disorders Biological and medical sciences Chediak-Higashi Syndrome - diagnosis Codon, Nonsense Dermatology Diagnosis, Differential Errors of metabolism General aspects Humans Immunologic Deficiency Syndromes - genetics Immunologic Deficiency Syndromes - pathology Infant, Newborn Male Medical sciences Melanocytes - pathology Metabolic diseases Piebaldism - genetics Piebaldism - pathology Pigmentary diseases of the skin Prognosis rab GTP-Binding Proteins - genetics rab27 GTP-Binding Proteins
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Beschreibung
Zusammenfassung:	An infant with partial albinism was suspected to have Chediak-Higashi syndrome because two of his elder siblings had albinism and died in childhood following accelerated phase. Detailed investigations of blood, hair and skin of the proband revealed that he had Griscelli syndrome.
ISSN:	0019-6061 0974-7559