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  5. Midline defects recessive type

Midline defects recessive type

December 31, 2014

Latest Research

  • <em>CDK5RAP2</em> primary microcephaly is associated with hypothalamic, retinal and cochlear developmental defects
  • A homozygous 237-kb deletion at 1p31 identified as the locus for midline cleft of the upper and lower lip in a consanguineous family
  • A phenotypic variant of Knobloch syndrome
  • Absence of ventral cell populations in the developing brain in a rat model of the Smith-Lemli-Opitz syndrome
  • Absent pituitary gland and hypoplasia of the cerebellar vermis associated with partial ophthalmoplegia and postaxial polydactyly: a variant of orofaciodigital syndrome VI or a new syndrome?
More Research
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CheckOrphan is a non-profit organization located in Basel, Switzerland and Santa Cruz, California that is dedicated to rare, orphan and neglected diseases. CheckOrphan offers users an interactive and dynamic platform for all these diseases. This strategy allows visitors to be updated daily on all the latest news and interact with people internationally. This is essential, because due to the nature of these diseases, there is not a large concentration of individuals within any given proximity.
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