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Albinism is a rare genetic disease, comprising syndromic and non‐syndromic forms. We assessed clinical and genetic… Expand Interstitial deletions of chromosome band 10q22.1q22.3 are rare. We here report a 2.5-year-old female patient with developmental… Expand This article has been accepted for publication and undergone full peer review but has not been through the copyediting… Expand Albinism is a rare genetic condition globally characterized by a number of specific deficits in the visual system, resulting in… Expand Oculocutaneous albinism (OCA) is an autosomal recessive disorder caused by either complete lack of or a reduction of melanin… Expand 1.4 OMIM# of the gene(s) 606933 (TYR), protein: Tyrosinase. RefSeq: NG_008748.1. Transcript: NM_000372.4 611409 (OCA2), protein… Expand Autosomal-recessive albinism is a hypopigmentation disorder with a broad phenotypic range. A substantial fraction of individuals… Expand Interstitial deletions of chromosome band 10q22 are rare. We report on the characterization of three overlapping de novo 10q22… Expand