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Disease: XK aprosencephaly

  • A fetus suggesting an extension of theXK-aprosencephaly spectrum phenotype
  • A review and case report of aprosencephaly and the XK aprosencephaly syndrome
  • Anomalies of the forebrain with radial limb defects: Garcia-Lurie-Steinfeld syndrome?
  • Aprosencephaly: review of the literature and report of a case with cerebellar hypoplasia, pigmented epithelial cyst and Rathke's cleft cyst
  • Brief clinical reports: aprosencephaly-atelencephaly and the aprosencephaly (XK) syndrome
  • Hypoplastic thumbs and hydranencephaly: a new syndrome?
  • Mosaic r(13) in an infant with aprosencephaly
  • Severe brain and limb defects with possible autosomal recessive inheritance: a series of six cases and review of the literature
  • The XK-aprosencephaly syndrome
  • VACTERL-hydrocephaly, DK-phocomelia, and cerebro-cardio-radio-reno-rectal community
  • XK aprosencephaly
  • XK aprosencephaly and anencephaly in sibs
  • XK aprosencephaly may be a new mutation or a dominant genetic defect
  • XK-aprosencephaly and related entities
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