Genetic analysis in three Egyptian patients with Griscelli syndrome Type 1 reveals new nonsense mutations in MYO5A

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Veröffentlicht in:	Clinical and experimental dermatology 2020-08, Vol.45 (6), p.789-792
Hauptverfasser:	Abd Elmaksoud, M. S., Gomaa, N. S., Azouz, H. G., On, C. N. V., Ho, C. T., Omar, T. E., McGrath, J. A., Onoufriadis, A.
Format:	Artikel
Sprache:	eng
Schlagworte:	Child Child, Preschool Codon, Nonsense Dermatology Egypt - epidemiology Female Genetic analysis Genotype Griscelli syndrome Hearing Loss, Sensorineural - diagnosis Hearing Loss, Sensorineural - epidemiology Hearing Loss, Sensorineural - genetics Hearing Loss, Sensorineural - pathology Humans Hypopigmentation - diagnosis Hypopigmentation - etiology Hypopigmentation - genetics Immunologic Deficiency Syndromes - diagnosis Immunologic Deficiency Syndromes - etiology Immunologic Deficiency Syndromes - genetics Infant Life Sciences & Biomedicine Lymphohistiocytosis, Hemophagocytic - diagnosis Lymphohistiocytosis, Hemophagocytic - etiology Lymphohistiocytosis, Hemophagocytic - genetics Male Myosin Heavy Chains - genetics Myosin Type V - genetics Nervous System Diseases - diagnosis Nervous System Diseases - etiology Nervous System Diseases - genetics Pedigree Phenotype Piebaldism - diagnosis Piebaldism - epidemiology Piebaldism - genetics Piebaldism - pathology Pigmentation Disorders - diagnosis Pigmentation Disorders - epidemiology Pigmentation Disorders - genetics Pigmentation Disorders - pathology Prevalence Science & Technology
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ISSN:	0307-6938 1365-2230
DOI:	10.1111/ced.14220