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Disease: Microhydranencephaly

  • Characteristics of fetuses evaluated due to suspected anencephaly: a population-based cohort study in southern Brazil
  • Familial microhydranencephaly, a family that does not map to 16p13.13-p12.2: relationship with hereditary fetal brain degeneration and fetal brain disruption sequence
  • Fetal brain disruption sequence versus fetal brain arrest: A distinct autosomal recessive developmental brain malformation phenotype
  • In utero brain destruction resulting in collapse of the fetal skull, microcephaly, scalp rugae, and neurologic impairment: the fetal brain disruption sequence
  • MID-LINE CLEFT LIP AND PALATE WITH HYDRANENCEPHALY AND MICROCEPHALY
  • NDE1-related disorders: A recurrent NDE1 pathogenic variant causing Lissencephaly 4 can also be associated with microhydranencephaly
  • Novel NDE1 homozygous mutation resulting in microhydranencephaly and not microlyssencephaly
  • Phenotypic spectrum of NDE1-related disorders: from microlissencephaly to microhydranencephaly
  • Prenatal diagnosis of fetal microhydranencephaly: a case report and literature review
  • The novel genetic disorder microhydranencephaly maps to chromosome 16p13.3-12.1
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