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Albinism ocular
Ataxia teleangiectasica
Ataxia-telangiectasia
Boder-Sedgwick syndrome
Cephalo-oculocutaneous telangiectasis
Cross
Hermansky-Pudlak
Louis-Bar syndrome
Oculocutaneous
Oculocutaneous albinism type 2
Syndrome Chediak

Traduction de «Oculocutaneous » (Anglais → Français) :

oculocutaneous albinism type 2

albinisme oculo-cutané type 2


A group of tyrosine related oculocutaneous albinism (OCA1) that includes OCA1A, OCA1B, type 1 minimal pigment oculocutaneous albinism (OCA1-MP) and type 1 temperature sensitive oculocutaneous albinism (OCA1-TS). The phenotypic spectrum seen in OCA1 i

albinisme oculo-cutané type 1


Louis-Bar syndrome | Boder-Sedgwick syndrome | ataxia-telangiectasia | ataxia teleangiectasica | cephalo-oculocutaneous telangiectasis

syndrome de Louis-Bar | ataxie | télangiectasie | syndrome de Mme Louis-Bar


A type of oculocutaneous albinism found in one Pakistani family to date, with characteristics of white skin, golden hair, photophobia, nystagmus, foveal hypoplasia and impaired visual acuity. Affects males and females equally. Mapped to a locus on ch

albinisme oculo-cutané type 5


A type of Oculocutaneous albinism with varying degrees of skin and hair hypopigmentation, numerous ocular changes and misrouting of the optic nerves at the chiasm. Cutaneous hypopigmentation is often visible at birth and signs of nystagmus and strabi

albinisme oculo-cutané type 4


Albinism:ocular | oculocutaneous | Syndrome:Chediak(-Steinbrinck)-Higashi | Cross | Hermansky-Pudlak

Albinisme:cutanéo-oculaire | oculaire | Syndrome de:Chediak(-Steinbrinck)-Higashi | Cross | Hermansky-Pudlak




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'Oculocutaneous' ->

Date index: 2021-11-23
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