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Ocular albinism with sensorineural deafness

✍ Scribed by Woo-Jung Tak; Myeung-Nam Kim; Chang-Kwan Hong; Byung-In Ro; Kye-Yong Song; Seong-Jun Seo


Book ID
111754801
Publisher
John Wiley and Sons
Year
2004
Tongue
English
Weight
126 KB
Volume
43
Category
Article
ISSN
0011-9059

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Ocular albinism in a male with del (6)(q
✍ Rose, Nancy C. ;Menacker, Sheryl J. ;Schnur, Rhonda E. ;Jackson, Laird ;McDonald πŸ“‚ Article πŸ“… 1992 πŸ› John Wiley and Sons 🌐 English βš– 592 KB

We describe a boy with an interstitial deletion of 6(q13-q15) and include "coarse" facial features, upslanting palpebral fissures, thin vermilion border of the upper lip, elongated philtrum, developmental delay, and profound hypotonia. The child's eye findings, pedigree, paucity of maternal ocular c