A novel HCFC1 variant in male siblings with intellectual disability and microcephaly in the absence of cobalamin disorder

समान संसाधन

• Two unrelated individuals carrying rare mosaic deletions in TCF4 gene
  द्वारा: Kousoulidou, Ludmila, और अन्य
  प्रकाशित: (2018)
• The role of HCFC1 in syndromic and non-syndromic intellectual disability.
  द्वारा: Castro, Victoria L., और अन्य
  प्रकाशित: (2020)
• De novo mosaic MECP2 mutation in a female with Rett syndrome
  द्वारा: Alexandrou, Angelos, और अन्य
  प्रकाशित: (2019)
• Mild Phenotype in a Patient with a De Novo 6.3 Mb Distal Deletion at 10q26.2q26.3
  द्वारा: Tanteles, George A., और अन्य
  प्रकाशित: (2015)
• Biallelic variants in VARS in a family with two siblings with intellectual disability and microcephaly: case report and review of the literature
  द्वारा: Okur, Volkan, और अन्य
  प्रकाशित: (2018)