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September 5, 2024American Journal of Medical Genetics Part A

WDR44 Loss‐of‐Function Promoter Deletion in a Male Newborn With a Ciliopathy Phenotype

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Authors

TSTam P. SneddonKGKelly L. GilmoreMXMai Xiong

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Sneddon et al. (2024) studied this question.

synapsesocial.com/papers/68e59556b6db64358753003ahttps://doi.org/10.1002/ajmg.a.63861
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Also Consider

Synapse has enriched 5 closely related papers on similar clinical questions. Consider them for comparative context:

  1. 1Report of a Homozygous Nonsense Variant in the <scp> <i>WDR91</i> </scp> Gene Associated With Severe Communicating Hydrocephalus, Dandy Walker Malformation, and Cerebellar Hypoplasia2026
  2. 2Scaphocephaly as a Novel Phenotypic Feature of <i>WDR83OS</i> ‐Related Neurodevelopmental Disorder: A Case Report With a Novel Variant and Literature Review2026
  3. 3WDR81 Mutation in Two Siblings: A Case Report and Review of Literature2025
  4. 4Prenatal Diagnosis of Autosomal Recessive Primary Microcephaly Type 2 Caused by Compound Heterozygous <scp> <i>WDR62</i> </scp> Variants in a Family With Two Recurrent Cases2026
  5. 5Homozygous Intragenic Deletion in &lt;i&gt;WDR62&lt;/i&gt; in Siblings with Primary Microcephaly2024