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Article

Novel HOXD13 variants in syndactyly type 1b and type 1c, and a new spectrum of TP63-related disorders.

Journal of human genetics - 1 Jan 2022

Patel Rashmi, Singh Subodh Kumar, Bhattacharya Visweswar, Ali Akhtar

Abstract excerpt

Syndactyly is the most common limb defect depicting the bony and/or cutaneous fusion of digits. Syndactyly can be of various types depending on the digits involved in the fusion. To date, eight syndactyly-associated genes have been reported, of which HOXD13 and GJA1 have been explored in a few syndactyly but most of them have unknown underlying genetics. In the present study HOXD13, GJA1 and TP63 genes have been...

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PMID: 34321610
DOI: 10.1038/s10038-021-00963-5

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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