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Disease: Anonychia microcephaly

  • A syndromic form of autosomal recessive congenital microcephaly (Jawad syndrome) maps to chromosome 18p11.22-q11.2
  • Anonychia associated with ectrodactyly syndrome: a case report
  • Hoyeraal-Hreidarsson Syndrome due to PARN Mutations: Fourteen Years of Follow-Up
  • Nail and phalangeal agenesis in a patient with 4pter and 9pter duplication
  • Progressive reticulate skin pigmentation and anonychia in a patient with bone marrow failure
  • RBBP8 syndrome with microcephaly, intellectual disability, short stature and brachydactyly
  • Total anonychia congenita and microcephaly with normal intelligence: a new autosomal-recessive syndrome?
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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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