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Clinical and molecular analysis in families with autosomal recessive osteogenesis imperfecta identifies mutations in five genes and suggests genotype-phenotype correlations

American Journal of Medical Genetics. Part A, Jun 2013, Vol.161(6), pp.1354-1369 [Peer Reviewed Journal]

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Clinical and molecular characterization of seven Egyptian families with autosomal recessive robinow syndrome: Identification of four novel ROR2 gene mutations

American Journal of Medical Genetics. Part A, Dec 2015, Vol.167(12), pp.3054-3061 [Peer Reviewed Journal]

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Mutations in PLOD2 cause autosomal-recessive connective tissue disorders within the Bruck syndrome--Osteogenesis imperfecta phenotypic spectrum

Human Mutation, Oct 2012, Vol.33(10), pp.1444-1449 [Peer Reviewed Journal]

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Expanding the phenotypic and mutational spectrum in microcephalic osteodysplastic primordial dwarfism type I

American Journal of Medical Genetics. Part A, Jun 2012, Vol.158A(6), pp.1455-1461 [Peer Reviewed Journal]

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by this Author/Contributor:

  1. Amr, Khalda
  2. Temtamy, Samia
  3. Aglan, Mona
  4. Lapunzina, Pablo
  5. Ruiz-Perez, Victor L

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