Novel splice mutation in LRP4 causes severe type of Cenani-Lenz syndactyly syndrome with oro-facial and skeletal symptoms
Author:
Funder
URF-QAU
Publisher
Elsevier BV
Subject
Genetics (clinical),Genetics,General Medicine
Reference18 articles.
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4. Genomic rearrangements of the GREM1-FMN1 locus cause oligosyndactyly, radio-ulnarsynostosis, hearing loss, renal defects syndrome and Cenani–Lenz-like non-syndromic oligosyndactyly;Dimitrov;J. Med. Genet.,2010
5. A variant of Cenani-Lenz syndactyly (CLS): review of the literature and attempt of classification;Harpf;Br. J. Plast. Surg.,2005
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1. A novel homozygous missense variant in LRP4 causing Cenani‐Lenz syndactyly syndrome and literature review;Molecular Genetics & Genomic Medicine;2023-11-27
2. LRP4 is required for the olfactory association task in the piriform cortex;Cell & Bioscience;2022-05-07
3. Recent Advances in Syndactyly: Basis, Current Status and Future Perspectives;Genes;2022-04-27
4. Identification of novel missense mutations associated with non-syndromic syndactyly in two vietnamese trios by whole exome sequencing;Clinica Chimica Acta;2020-07
5. Cenani-Lenz syndactyly in siblings with a novel homozygous LRP4 mutation and recurrent hypoglycaemia;Clinical Dysmorphology;2020-04
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