A locus for autosomal dominant colobomatous microphthalmia maps to chromosome 15q12-q15.

@article{Morl2000ALF,
  title={A locus for autosomal dominant colobomatous microphthalmia maps to chromosome 15q12-q15.},
  author={Laurette Morl{\'e} and Muriel Bozon and James C. Zech and Nicole Alloisio and Annick Raas-Rothschild and Colette Philippe and Jean Claude Lambert and J. Godet and Henri Plauchu and Patrick Edery},
  journal={American journal of human genetics},
  year={2000},
  volume={67 6},
  pages={1592-7}
}
Congenital microphthalmia is a common developmental ocular disorder characterized by shortened axial length. Isolated microphthalmia is clinically and genetically heterogeneous and may be inherited in an autosomal dominant, autosomal recessive, or X-linked manner. Here, we studied a five-generation family of Sephardic Jewish origin that included 38 members, of whom 7 have either unilateral or bilateral microphthalmia of variable severity inherited as an autosomal dominant trait with incomplete… CONTINUE READING

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