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Fatal Chronic Varicella-Zoster Viral Infection in a Young Man With Chediak-Higashi Syndrome. [PDF]
Pediatr DermatolBadet A +4 more
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Sequencing and phylogenetic analysis of the mitochondrial genome of the albino Northern snakehead, <i>Channa argus</i> (Cantor 1842). [PDF]
Mitochondrial DNA B ResourDai W +8 more
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Survey of Ophthalmology, 1985
Albinism is the term applied to a heterogeneous group of genetically determined disorders characterized by hypopigmentation and affecting the eyes. After describing the clinical features of albinism in general, the authors discuss the various forms of oculocutaneous albinism, ocular albinism, and albinoidism that are of interest to the ophthalmologist.
Barrie Jay, C J Witkop
exaly +3 more sources
Albinism is the term applied to a heterogeneous group of genetically determined disorders characterized by hypopigmentation and affecting the eyes. After describing the clinical features of albinism in general, the authors discuss the various forms of oculocutaneous albinism, ocular albinism, and albinoidism that are of interest to the ophthalmologist.
Barrie Jay, C J Witkop
exaly +3 more sources
Dermatologic Clinics, 1988
Genetic abnormalities of the melanin pigment system in which the synthesis of melanin is reduced or absent are called albinism. The reduction in melanin synthesis can involve the skin, hair follicle, and eye, resulting in oculocutaneous albinism, or can be localized primarily to the eye, resulting in ocular albinism.
R A, King, C G, Summers
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Genetic abnormalities of the melanin pigment system in which the synthesis of melanin is reduced or absent are called albinism. The reduction in melanin synthesis can involve the skin, hair follicle, and eye, resulting in oculocutaneous albinism, or can be localized primarily to the eye, resulting in ocular albinism.
R A, King, C G, Summers
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Ophthalmology Clinics of North America, 2001
Albinism is a heterogeneous group of conditions having in common a hereditary error of melanin metabolism resulting in misrouting of optic nerve fibers during embryogenesis, underdevelopment of the neuroretinas, and in varying degrees of hypopigmentation of eyes, skin, and hair.
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Albinism is a heterogeneous group of conditions having in common a hereditary error of melanin metabolism resulting in misrouting of optic nerve fibers during embryogenesis, underdevelopment of the neuroretinas, and in varying degrees of hypopigmentation of eyes, skin, and hair.
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Ophthalmologica, 2010
There are seven forms of oculo-cutaneous albinism, which are all autosomal recessive: three are tyrosinase-negative (complete oculo-cutaneous albinism, Amish albinism, Hermansky-Pudlak syndrome) and four are tyrosinase-positive (incomplete oculo-cutaneous albinism, Chediak-Higashi syndrome, Cross syndrome, Bergsma's albinism).
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There are seven forms of oculo-cutaneous albinism, which are all autosomal recessive: three are tyrosinase-negative (complete oculo-cutaneous albinism, Amish albinism, Hermansky-Pudlak syndrome) and four are tyrosinase-positive (incomplete oculo-cutaneous albinism, Chediak-Higashi syndrome, Cross syndrome, Bergsma's albinism).
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Journal of the European Academy of Dermatology and Venereology, 2003
ABSTRACTOculocutaneous albinism represents a group of inherited skin disorders characterized by a generalized reduction of cutaneous, ocular and pilar pigmentation from the time of birth. Oculocutaneous albinism types 1 and 2 are the most common, but several other types have been described.
J F, Okulicz +3 more
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ABSTRACTOculocutaneous albinism represents a group of inherited skin disorders characterized by a generalized reduction of cutaneous, ocular and pilar pigmentation from the time of birth. Oculocutaneous albinism types 1 and 2 are the most common, but several other types have been described.
J F, Okulicz +3 more
openaire +2 more sources