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Cenani-Lenz syndrome and other related syndactyly disorders due to variants in LRP4, GREM1/FMN1, and APC: Insight into the pathogenesis and the relationship to polyposis through the WNT and BMP antagonistic pathways.
Al-Qattan MM, Alkuraya FS. Al-Qattan MM, et al. Am J Med Genet A. 2019 Feb;179(2):266-279. doi: 10.1002/ajmg.a.60694. Epub 2018 Dec 20. Am J Med Genet A. 2019. PMID: 30569497 Review.
Cenani-Lenz (C-L) syndrome is characterized by oligosyndactyly, metacarpal synostosis, phalangeal disorganization, and other variable facial and systemic features. ...Surprisingly, patients with C-L syndrome-like phenotype caused by APC truncating mutations have no …
Cenani-Lenz (C-L) syndrome is characterized by oligosyndactyly, metacarpal synostosis, phalangeal disorganization, and other variable …
A novel homozygous missense variant in LRP4 causing Cenani-Lenz syndactyly syndrome and literature review.
Fu Y, Zhou Y, Zhang Q, Dong J, Zheng J, Li M, Liu J. Fu Y, et al. Mol Genet Genomic Med. 2024 Jan;12(1):e2319. doi: 10.1002/mgg3.2319. Epub 2023 Nov 27. Mol Genet Genomic Med. 2024. PMID: 38013226 Free PMC article. Review.
BACKGROUND: Cenani-Lenzsyndactyly syndrome (CLSS; OMIM 212780) is a rare autosomal recessive acral deformity, which is mainly manifested in the fusion of fingers or toes, disordered phalangeal structure, shortening or fusion of the radius and ulna, and renal hypoplasia. .. …
BACKGROUND: Cenani-Lenzsyndactyly syndrome (CLSS; OMIM 212780) is a rare autosomal recessive acral deformity, which is mainly manifes …
[Genetic defects and disorders at the neuromuscular junction].
Ohno K. Ohno K. Brain Nerve. 2011 Jul;63(7):669-78. Brain Nerve. 2011. PMID: 21747136 Review. Japanese.
Genetic defects in molecules expressed at the neuromuscular junction (NMJ) cause congenital myasthenic syndromes (CMSs), which are characterized by muscle weakness, abnormal fatigability, amyotrophy, and minor facial anomalies. ...In addition, mutations in the heparin sulf …
Genetic defects in molecules expressed at the neuromuscular junction (NMJ) cause congenital myasthenic syndromes (CMSs), which are ch …
LRP4 site-specific variants in the third beta-propeller domain causes congenital myasthenic syndrome type 17.
Al Jabry T, Al-Hashmi N, Abdelhadi B, Al-Maawali A. Al Jabry T, et al. Eur J Med Genet. 2024 Feb;67:104903. doi: 10.1016/j.ejmg.2023.104903. Epub 2023 Dec 13. Eur J Med Genet. 2024. PMID: 38101565 Free article. Review.
Pathogenic variants of LRP4 that specifically affect the canonical WNT signaling pathway are known to be associated with Cenani-Lenz syndactyly syndrome or the overlapping condition sclerosteosis. However, site-specific pathogenic variants of LRP4 have …
Pathogenic variants of LRP4 that specifically affect the canonical WNT signaling pathway are known to be associated with Cenani-Le …