Novel Missense Variant in Heterozygous State in the BRPF1 Gene Leading to Intellectual Developmental Disorder With Dysmorphic Facies and Ptosis

Samankaltaisia teoksia

• Novel Missense Variant in Heterozygous State in the BRPF1 Gene Leading to Intellectual Developmental Disorder With Dysmorphic Facies and Ptosis
  Tekijä: Muhammad Imran Naseer, et al.
  Julkaistu: (2020-05-01)
• Next generation sequencing reveals novel homozygous frameshift in PUS7 and splice acceptor variants in AASS gene leading to intellectual disability, developmental delay, dysmorphic feature and microcephaly
  Tekijä: Naseer, Muhammad Imran, et al.
  Julkaistu: (2020)
• Exome Analysis Identified Novel Homozygous Splice Site Donor Alteration in NT5C2 Gene in a Saudi Family Associated With Spastic Diplegia Cerebral Palsy, Developmental Delay, and Intellectual Disability
  Tekijä: Naseer, Muhammad Imran, et al.
  Julkaistu: (2020)
• BRPF1‐associated intellectual disability, ptosis, and facial dysmorphism in a multiplex family
  Tekijä: Pode‐Shakked, Naomi, et al.
  Julkaistu: (2019)
• Exome sequencing reveled a compound heterozygous mutations in RTTN gene causing developmental delay and primary microcephaly
  Tekijä: Imran Naseer, Muhammad, et al.
  Julkaistu: (2021)