Clinical phenotype associated with homozygosity for a HOXD13 7-residue polyalanine tract expansion
Author:
Publisher
Elsevier BV
Subject
Genetics (clinical),Genetics,General Medicine
Reference20 articles.
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1. Long‐read whole genome sequencing reveals HOXD13 alterations in synpolydactyly;Human Mutation;2021-12-16
2. A Review of the Phenotype of Synpolydactyly Type 1 in Homozygous Patients: Defining the Relatively Long and Medially Deviated Big Toe with/without Cupping of the Forefoot as a Pathognomonic Feature in the Phenotype;BioMed Research International;2020-05-16
3. Context-dependent HOX transcription factor function in health and disease;Dancing Protein Clouds: Intrinsically Disordered Proteins in Health and Disease, Part B;2020
4. A heterozygous duplication variant of the HOXD13 gene caused synpolydactyly type 1 with variable expressivity in a Chinese family;BMC Medical Genetics;2019-12
5. A Nonsense Mutation in HOXD13 Gene from A Chinese Family with Non-Syndromic Synpolydactyly;The Tohoku Journal of Experimental Medicine;2019
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