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Identification and functional characterization of a novel pathogenic DVL1 gene variant in Robinow syndrome.

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Title: Identification and functional characterization of a novel pathogenic DVL1 gene variant in Robinow syndrome.
Authors: Kumar A; Department of Human Genetics and Molecular Medicine, Central University of Punjab, Bathinda, 151401, India., Rai S; Department of Pediatrics, Guru Gobind Singh Medical College and Hospital, Faridkot, Punjab, 151203, India., Kumar A; Department of Human Genetics and Molecular Medicine, Central University of Punjab, Bathinda, 151401, India., Dey C; Department of Computational Sciences, Central University of Punjab, Bathinda, 151401, India., Chakraborty S; Department of Computational Sciences, Central University of Punjab, Bathinda, 151401, India., Munshi A; Department of Human Genetics and Molecular Medicine, Central University of Punjab, Bathinda, 151401, India. anjana.munshi@cup.edu.in.
Source: Molecular genetics and genomics : MGG [Mol Genet Genomics] 2026 Jun 16; Vol. 301 (1). Date of Electronic Publication: 2026 Jun 16.
Publication Type: Journal Article; Case Reports
Journal Info: Publisher: Springer-Verlag Country of Publication: Germany NLM ID: 101093320 Publication Model: Electronic Cited Medium: Internet ISSN: 1617-4623 (Electronic) Linking ISSN: 16174623 NLM ISO Abbreviation: Mol Genet Genomics Subsets: MEDLINE
Database: MEDLINE Ultimate
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  Data: Identification and functional characterization of a novel pathogenic DVL1 gene variant in Robinow syndrome.
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  Data: <searchLink fieldCode="AU" term="%22Kumar+A%22">Kumar A</searchLink>; Department of Human Genetics and Molecular Medicine, Central University of Punjab, Bathinda, 151401, India.<br /><searchLink fieldCode="AU" term="%22Rai+S%22">Rai S</searchLink>; Department of Pediatrics, Guru Gobind Singh Medical College and Hospital, Faridkot, Punjab, 151203, India.<br /><searchLink fieldCode="AU" term="%22Kumar+A%22">Kumar A</searchLink>; Department of Human Genetics and Molecular Medicine, Central University of Punjab, Bathinda, 151401, India.<br /><searchLink fieldCode="AU" term="%22Dey+C%22">Dey C</searchLink>; Department of Computational Sciences, Central University of Punjab, Bathinda, 151401, India.<br /><searchLink fieldCode="AU" term="%22Chakraborty+S%22">Chakraborty S</searchLink>; Department of Computational Sciences, Central University of Punjab, Bathinda, 151401, India.<br /><searchLink fieldCode="AU" term="%22Munshi+A%22">Munshi A</searchLink>; Department of Human Genetics and Molecular Medicine, Central University of Punjab, Bathinda, 151401, India. anjana.munshi@cup.edu.in.
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  Data: <searchLink fieldCode="JN" term="%22101093320%22">Molecular genetics and genomics : MGG</searchLink> [Mol Genet Genomics] 2026 Jun 16; Vol. 301 (1). <i>Date of Electronic Publication: </i>2026 Jun 16.
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  Data: Journal Article; Case Reports
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  Data: <i>Publisher: </i><searchLink fieldCode="PB" term="%22Springer-Verlag%22">Springer-Verlag </searchLink><i>Country of Publication: </i>Germany <i>NLM ID: </i>101093320 <i>Publication Model: </i>Electronic <i>Cited Medium: </i>Internet <i>ISSN: </i>1617-4623 (Electronic) <i>Linking ISSN: </i><searchLink fieldCode="IS" term="%2216174623%22">16174623 </searchLink><i>NLM ISO Abbreviation: </i>Mol Genet Genomics <i>Subsets: </i>MEDLINE
PLink https://search.ebscohost.com/login.aspx?direct=true&site=eds-live&db=mdl&AN=42298173
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        Value: 10.1007/s00438-026-02466-4
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        Text: English
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      – TitleFull: Identification and functional characterization of a novel pathogenic DVL1 gene variant in Robinow syndrome.
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              Text: 2026 Jun 16
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