Varaico: Literature-Extracted Genetic Variants

Gene:LMBR1
Variant:p.S35S
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LMBR1

NM_022458.4:p.S35S

Associated Papers

Genetics of congenital anomalies of the hand.

Kyriazis Z et al.

World Journal of Orthopedics, 2022

Prenatal diagnosis of triphalangeal thumb-polysyndactyly syndrome by ultrasonography combined with genetic testing: A case report.

Zhang SJ et al.

World Journal of Clinical Cases, 2021

[Genetic analysis of one family with congenital limb malformations].

Cai F et al.

Zhonghua Yi Xue Yi Chuan Xue Za Zhi = Zhonghua Yixue Yichuanxue Zazhi = Chinese Journal of Medical Genetics, 2019

Intrafamilial variability of the triphalangeal thumb phenotype in a Dutch population: Evidence for phenotypic progression over generations?

Baas M et al.

American Journal of Medical Genetics. Part A, 2017

[ZRS mutations in two Chinese Han families featuring triphalangeal thumbs and preaxial polydactyly].

Zhao X et al.

Zhonghua Yi Xue Yi Chuan Xue Za Zhi = Zhonghua Yixue Yichuanxue Zazhi = Chinese Journal of Medical Genetics, 2016

A specific mutation in the distant sonic hedgehog (SHH) cis-regulator (ZRS) causes Werner mesomelic syndrome (WMS) while complete ZRS duplications underlie Haas type polysyndactyly and preaxial polydactyly (PPD) with or without triphalangeal thumb.

Wieczorek D et al.

Human Mutation, 2010

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."