The first Chinese intellectual developmental disorder, autosomal recessive 57 patient with two novel MBOAT7 variants

Ähnliche Einträge

• Novel compound heterozygous variants in MARVELD2 causing autosomal recessive hearing loss in two Chinese families
  von: Xinyu Shi, et al.
  Veröffentlicht: (2024)
• Two novel pathogenic variants in the TCOF1 found in two Chinese cases of Treacher Collins syndrome
  von: Dan‐Yan Zhuang, et al.
  Veröffentlicht: (2024)
• A novel variant in ASNS gene responsible for syndromic intellectual disability and microcephaly: Case report and literature review
  von: Mohammad Jahanpanah, et al.
  Veröffentlicht: (2024)
• A novel intronic variant causing aberrant splicing identified in two deaf Chinese siblings with enlarged vestibular aqueducts
  von: Suyang Wang, et al.
  Veröffentlicht: (2024)
• Identification of novel pathogenic variants of CUBN in patients with isolated proteinuria
  von: Huihui Yang, et al.
  Veröffentlicht: (2024)