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  • Limb/pelvis-hypoplasia/aplasia syndrome (Al-Awadi/Raas-Rothschild syndrome): report of two Italian sibs and further confirmation of autosomal recessive inheritance.

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Research Article
Limb/pelvis-hypoplasia/aplasia syndrome (Al-Awadi/Raas-Rothschild syndrome): report of two Italian sibs and further confirmation of autosomal recessive inheritance.
  1. G Camera,
  2. G Ferraiolo,
  3. D Leo,
  4. A Spaziale,
  5. S Pozzolo
  1. Centro di Genetica Umana, Ospedali Galliera, Genoa, Italy.

    Abstract

    A third family with two Italian neonates affected with limb/pelvis-hypoplasia/aplasia syndrome is reported. The disorder shows autosomal recessive inheritance.

    https://doi.org/10.1136/jmg.30.1.65

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