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Article

Neonatal Oculocutaneous Albinism Type 2 With Prader-Willi Syndrome

2020-08-06

Abstract excerpt

<title>Abstract</title> <p><bold>Background: </bold>To investigate the pathogenesis and clinical characteristics of Oculocutaneous albinism type 2 (OCA2), a genetic condition in the etiology of Prader-Willi syndrome (PWS).<bold>Case presentation: </bold>A retrospective study of one case presented with poor response to stimuli, difficultfeeding, poor crying, with yellow hair and white skin. We performed genetic te...

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Literature Corpus work
3c4c9ab8-ac54-561b-98e5-0f5230ebb85a
DOI
10.21203/rs.3.rs-52302/v1
Open publication

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Neonatal&nbsp;Oculocutaneous Albinism Type 2 With Prader-Willi SyndromeDOI 10.21203/rs.3.rs-52302/v1
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