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Aplasia cutis congenita, high myopia, and cone-rod dysfunction in two sibs: A new autosomal recessive disorder

✍ Scribed by Gershoni-Baruch, Ruth; Leibo, Rina

Publisher: John Wiley and Sons
Year: 1996
Tongue: English
Weight: 14 KB
Volume: 61
Category: Article
ISSN: 0148-7299
DOI: 10.1002/(sici)1096-8628(19960102)61:1<42::aid-ajmg8>3.0.co;2-z

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✦ Synopsis

We report on a brother and a sister with congenital nystagmus, cone-rod dysfunction, high myopia, and aplasia cutis congenita on the midline of the scalp vertex. To our knowledge this familial oculocutaneous condition, transmitted as an autosomal recessive trait, has not been reported previously.

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