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Albinisme
Chediak
Cross
Hermansky-Pudlak
Oculair
Oculocutaan
Oculocutaan albinisme type 1
Oculocutaan albinisme type 4
Oculocutaan albinisme type 5
Syndroom van

Traduction de «oculocutaan albinisme type » (Néerlandais → Anglais) :

oculocutaan albinisme type 4

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


oculocutaan albinisme type 1

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


oculocutaan albinisme type 5

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 | oculair | albinisme | oculocutaan | syndroom van | Chediak(-Steinbrinck)-Higashi | syndroom van | Cross | syndroom van | Hermansky-Pudlak

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




D'autres ont cherché : chediak-higashi     hermansky-pudlak     albinisme     oculair     oculocutaan     oculocutaan albinisme type     syndroom     


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Date index: 2023-07-12
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