Compound Phenotype Due to Recessive Variants in LARP7 and OTOG Genes Disclosed by an Integrated Approach of SNP-Array and Whole Exome Sequencing

Ítems similars

• Compound Phenotype Due to Recessive Variants in <i>LARP7</i> and <i>OTOG</i> Genes Disclosed by an Integrated Approach of SNP-Array and Whole Exome Sequencing
  per: Pietro Palumbo, et al.
  Publicat: (2020-03-01)
• The recurrent SETBP1 c.2608G > A, p.(Gly870Ser) variant in a patient with Schinzel-Giedion syndrome: an illustrative case of the utility of whole exome sequencing in a critically ill neonate
  per: Leone, Maria Pia, et al.
  Publicat: (2020)
• Whole Exome Sequencing Reveals a Novel AUTS2 In-Frame Deletion in a Boy with Global Developmental Delay, Absent Speech, Dysmorphic Features, and Cerebral Anomalies
  per: Palumbo, Pietro, et al.
  Publicat: (2021)
• A Private 16q24.2q24.3 Microduplication in a Boy with Intellectual Disability, Speech Delay and Mild Dysmorphic Features
  per: Palumbo, Orazio, et al.
  Publicat: (2020)
• Double missense mutations in cardiac myosin‐binding protein C and myopalladin genes: A case report with diffuse coronary disease, complete atrioventricular block, and progression to dilated cardiomyopathy
  per: Mastroianno, Sandra, et al.
  Publicat: (2019)