Auriculocondylar syndrome 2 caused by a novel PLCB4 variant in a male Chinese neonate: A case report and review of the literature

Documenti analoghi

• A novel variant in ASNS gene responsible for syndromic intellectual disability and microcephaly: Case report and literature review
  di: Mohammad Jahanpanah, et al.
  Pubblicazione: (2024)
• Brainstem dominant form of X‐linked adrenoleukodystrophy with a novel ABCD1 missense variant: A case report and literature review
  di: Yulai Kang, et al.
  Pubblicazione: (2024)
• A case of polyglucosan body myopathy caused by an RBCK1 gene variant and literature review
  di: Qiqing Sun, et al.
  Pubblicazione: (2024)
• Clinical report and genetic analysis of rare premature infant nephronophthisis caused by biallelic TTC21B variants
  di: Yingying Li, et al.
  Pubblicazione: (2024)
• Two novel pathogenic variants in the TCOF1 found in two Chinese cases of Treacher Collins syndrome
  di: Dan‐Yan Zhuang, et al.
  Pubblicazione: (2024)