Microcephaly/Trigonocephaly, Intellectual Disability, Autism Spectrum Disorder, and Atypical Dysmorphic Features in a Boy with Xp22.31 Duplication

Míreanna Comhchosúla

• PRRT2 gene variant in a child with dysmorphic features, congenital microcephaly, and severe epileptic seizures: genotype-phenotype correlation?
  le: Pavone, Piero, et al.
  Foilsithe: (2019)
• Intronic Variant in CNTNAP2 Gene in a Boy With Remarkable Conduct Disorder, Minor Facial Features, Mild Intellectual Disability, and Seizures
  le: Falsaperla, Raffaele, et al.
  Foilsithe: (2020)
• Cerebral White Matter Lesions and Dysmorphisms: Signs Suggestive of 6p25 Deletion Syndrome—Literature Review
  le: Pavone, Piero, et al.
  Foilsithe: (2019)
• Primary Microcephaly with Novel Variant of MCPH1 Gene in Twins: Both Manifesting in Childhood at the Same Time with Hashimoto's Thyroiditis
  le: Pavone, Piero, et al.
  Foilsithe: (2020)
• Severe Neurological Phenotype in a Girl with Xp22.31 Triplication
  le: Polo-Antúnez, Antonio, et al.
  Foilsithe: (2017)