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Congenital nasal pyriform aperture stenosis and ocular albinism co-occurring in a sibship with a maternally-inherited 97 kb Xp22.2 microdeletion.

Authors
Type
Published Article
Journal
American Journal of Medical Genetics Part A
1552-4833
Publisher
Wiley Blackwell (John Wiley & Sons)
Publication Date
Volume
164A
Issue
5
Pages
1268–1271
Identifiers
DOI: 10.1002/ajmg.a.36415
PMID: 24478262
Source
Medline
Keywords
  • Gpr143
  • Tbl1X, Shroom2
  • Cnpas
  • Congenital Nasal Pyriform Aperture Stenosis
  • Ocular Albinism

Abstract

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