Sequence variants in DLX5, HOXD13 and 445 kb-microduplication surrounding BTRC cause split-hand/foot malformation in three different families

Clin Genet. 2024 Jan;105(1):109-111. doi: 10.1111/cge.14430. Epub 2023 Sep 30.

Authors

Affiliations

¹ Department of Biochemistry, Faculty of Biological Sciences, Quaid-i-Azam University Islamabad, Islamabad, Pakistan.
² Pediatric Genomics Discovery Program, Department of Pediatrics, Yale University School of Medicine, New Haven, Connecticut, USA.
³ Department of Biosciences, COMSATS University Islamabad, Islamabad, Pakistan.
⁴ Department of Biotechnology and Genetic Engineering, Kohat University of Science &Technology (KUST), Kohat, Pakistan.

PMID: 37776184
DOI: 10.1111/cge.14430

No abstract available

Keywords: 445 kb duplication; BTRC; DLX5; HOXD13.

Publication types

Research Support, Non-U.S. Gov't

MeSH terms

Homeodomain Proteins* / genetics
Humans
Limb Deformities, Congenital*
Pedigree
Transcription Factors* / genetics
beta-Transducin Repeat-Containing Proteins* / genetics

Substances

DLX5 protein, human
Homeodomain Proteins
HOXD13 protein, human
Transcription Factors
BTRC protein, human
beta-Transducin Repeat-Containing Proteins

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